Sökresultat - "HETEROZYGOSITY"

Loss of Heterozygosity associated with ubiquitous environments in yeast.

Vijayan N; School of Biology, Indian Institute of Science Education and Research Thiruvananthapuram, Trivandrum, Kerala, India., Joshi S; School of Biology, Indian Institute of Science Education and Research Thiruvananthapuram, Trivandrum, Kerala, India., Sarath P; School of Biology, Indian Institute of Science Education and Research Thiruvananthapuram, Trivandrum, Kerala, India., Nishant KT; School of Biology, Indian Institute of Science Education and Research Thiruvananthapuram, Trivandrum, Kerala, India.; Center for High-Performance Computing, Indian Institute of Science Education and Research Thiruvananthapuram, Trivandrum, Kerala, India.

Journal Article , 2025

Pathogenic Variants and Allele Loss of the NF2 and LZTR1 Gene in Sporadic Vestibular Schwannoma.

Breun M; Department of Neurosurgery, University Hospital of Würzburg, Würzburg, Germany; breun_m@ukw.de., Schulz T; Department of Neurosurgery, University Hospital of Würzburg, Würzburg, Germany., Monoranu CM; Department of Neuropathology, Institute of Pathology, University Hospital of Würzburg, Würzburg, Germany., Ernestus RI; Department of Neurosurgery, University Hospital of Würzburg, Würzburg, Germany., Matthies C; Department of Neurosurgery, University Hospital of Würzburg, Würzburg, Germany., Löhr M; Department of Neurosurgery, University Hospital of Würzburg, Würzburg, Germany., Kluwe L; Department of Neurology, University Hospital Hamburg-Eppendorf, Hamburg-Eppendorf, Germany.

Journal Article , 2025

PTEN loss drives p53 LOH and immune evasion in a novel urothelial organoid model harboring p53 missense mutations.

Hamada A; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Kita Y; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Sakatani T; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Nakamura K; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Takada H; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Ikeuchi R; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Koike S; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Masuda N; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan.; Department of Urology, Rakuwakai Otowa Hospital, Kyoto, Japan., Murakami K; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Sano T; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan.; Department of Urology and Andrology, Kansai Medical University, Osaka, Japan., Goto T; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Saito R; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Teramoto Y; Department of Diagnostic Pathology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Fujimoto M; Department of Diagnostic Pathology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Hatano N; Department of Biomedical Data Intelligence, Kyoto University Graduate School of Medicine, Kyoto, Japan., Kamada M; Department of Biomedical Data Intelligence, Kyoto University Graduate School of Medicine, Kyoto, Japan., Ogawa O; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan.; Department of Urology, Otsu Red Cross Hospital, Shiga, Japan., Kobayashi T; Department of Urology, Kyoto University Graduate School of Medicine, Kyoto, Japan. selecao@kuhp.kyoto-u.ac.jp.

Journal Article , 2025

Loss of Heterozygosity in Oral Potentially Malignant Disorders and Oral Squamous Cell Carcinoma - A Scoping Review.

Kavitha L; Department of Oral and Maxillofacial Pathology, Ragas Dental Colege and Hospital (Affiliated to The Tamil Nadu Dr. M.G.R. Medical University), ECR, Uthandi, Chennai, Tamil Nadu, 600 119, India., Ranganathan K; Department of Oral and Maxillofacial Pathology, Ragas Dental Colege and Hospital (Affiliated to The Tamil Nadu Dr. M.G.R. Medical University), ECR, Uthandi, Chennai, Tamil Nadu, 600 119, India. ranjay22@gmail.com.

Journal Article; Scoping Review , 2025

Variant allele fraction or copy-neutral loss of heterozygosity? A comparison of testing platforms in the classification of myeloid neoplasia.

Patwardhan PP; UPMC, Pittsburgh, United States., Baloda V; UPMC, Pittsburgh, United States., Al Amri RD; UPMC, Pittsburgh, United States., Aarabi M; University of Pittsburgh, Pittsburgh, United States.; UPMC Cytogenetics Laboratories, Pittsburgh, United States., Bailey NG; UPMC, Pittsburgh, United States. baileyng@upmc.edu.; University of Pittsburgh, Pittsburgh, United States. baileyng@upmc.edu.

Journal Article; Comparative Study , 2025

The dynamics of loss of heterozygosity events in genomes.

Dutta A; Université de Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, France., Schacherer J; Université de Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, France. schacherer@unistra.fr.; Institut Universitaire de France (IUF), Paris, France. schacherer@unistra.fr.

Journal Article; Review , 2025

Analysis of biopsies of gastric cancer, intestinal and diffuse, and non-atrophic gastritis: an overview of loss of heterozygosity in Mexican patients.

Larios-Serrato V; Laboratorio de Biotecnología y Bioinformática Genómica/Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Ciudad de México, Mexico., Valdez-Salazar HA; Unidad de Investigación Médica en Enfermedades Infecciosas y Parasitarias/Unidad Médica de Alta Especialidad-Hospital de Pediatría 'Dr. Silvestre Frenk Freund'/Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, Mexico., Torres J; Unidad de Investigación Médica en Enfermedades Infecciosas y Parasitarias/Unidad Médica de Alta Especialidad-Hospital de Pediatría 'Dr. Silvestre Frenk Freund'/Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, Mexico., Camorlinga M; Unidad de Investigación Médica en Enfermedades Infecciosas y Parasitarias/Unidad Médica de Alta Especialidad-Hospital de Pediatría 'Dr. Silvestre Frenk Freund'/Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, Mexico., Piña-Sánchez P; Unidad de Investigación Médica en Enfermedades Oncológicas/Unidad Médica de Alta Especialidad-Hospital de Oncología/Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, Mexico., Minauro F; Unidad de Investigación Médica en Genética Humana/Unidad Médica de Alta Especialidad-Hospital de Pediatría 'Dr. Silvestre Frenk Freund'/Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, Mexico., Ruiz-Tachiquín ME; Unidad de Investigación Médica en Enfermedades Oncológicas/Unidad Médica de Alta Especialidad-Hospital de Oncología/Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, Mexico.

Journal Article , 2025

KRAS Loss of Heterozygosity Promotes MAPK-Dependent Pancreatic Ductal Adenocarcinoma Initiation and Induces Therapeutic Sensitivity to MEK Inhibition.

Fey SK; Cancer Research UK Scotland Institute, Glasgow, United Kingdom.; School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom., Najumudeen AK; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., Watt DM; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., Millett LM; Cancer Research UK Scotland Institute, Glasgow, United Kingdom.; School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom., Ford CA; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., Gilroy K; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., Simpson RJ; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., McLay K; School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom., Upstill-Goddard R; School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom.; Wolfson Wohl Cancer Research Centre, Glasgow, United Kingdom., Chang D; School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom.; Wolfson Wohl Cancer Research Centre, Glasgow, United Kingdom., Clark W; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., Nixon C; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., Birch JL; School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom., Barry ST; Bioscience, Oncology R&D, AstraZeneca, Cambridge, United Kingdom., Morton JP; Cancer Research UK Scotland Institute, Glasgow, United Kingdom.; School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom., Campbell AD; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., Sansom OJ; Cancer Research UK Scotland Institute, Glasgow, United Kingdom.; School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom.

Journal Article , 2025

Loss of heterozygosity of CYP2D6 enhances the sensitivity of hepatocellular carcinomas to talazoparib.

Zhang X; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden., Rameika N; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden., Zhong L; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden., Rendo V; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden., Veanes M; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden., Kundu S; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden., Nuciforo S; Department of Biomedicine, University Hospital and University of Basel, CH-4031, Basel, Switzerland., Dupuis J; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden., Al Azhar M; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden., Tsiara I; Department of Chemistry-BMC, Science for Life Laboratory, Uppsala University, SE-751 23, Uppsala, Sweden., Seeburger P; Department of Chemistry-BMC, Science for Life Laboratory, Uppsala University, SE-751 23, Uppsala, Sweden., Al Nassralla S; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden., Ljungström V; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden., Svensson R; Uppsala Drug Optimization and Pharmaceutical Profiling Facility (UDOPP), SciLifeLab Chemical Biology Consortium Sweden (CBCS), Department of Pharmacy, Uppsala University, 751 23, Uppsala, Sweden; Department of Pharmacy, Uppsala University, Husargatan 3, 751 23, Uppsala, Sweden., Stoimenov I; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden., Artursson P; Department of Pharmacy, Uppsala University, Husargatan 3, 751 23, Uppsala, Sweden., Heim MH; Department of Biomedicine, University Hospital and University of Basel, CH-4031, Basel, Switzerland; Clarunis University Center for Gastrointestinal and Liver Diseases, CH-4002, Basel, Switzerland., Globisch D; Department of Chemistry-BMC, Science for Life Laboratory, Uppsala University, SE-751 23, Uppsala, Sweden., Sjöblom T; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, SE-751 85, Uppsala, Sweden. Electronic address: tobias.sjoblom@igp.uu.se.

Journal Article , 2024

Validation of a targeted next-generation sequencing panel for pancreatic ductal adenocarcinomas.

Racu ML; Department of Pathology, Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), CUB Hôpital Érasme, Route de Lennik, 808 1070 Brussels, Belgium., Schiavo AA; Department of Pathology, Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), CUB Hôpital Érasme, Route de Lennik, 808 1070 Brussels, Belgium., Van Campenhout C; Department of Pathology, Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), CUB Hôpital Érasme, Route de Lennik, 808 1070 Brussels, Belgium., De Nève N; Department of Pathology, Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), CUB Hôpital Érasme, Route de Lennik, 808 1070 Brussels, Belgium., Masuy T; Department of Pathology, Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), CUB Hôpital Érasme, Route de Lennik, 808 1070 Brussels, Belgium., Maris C; Department of Pathology, Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), CUB Hôpital Érasme, Route de Lennik, 808 1070 Brussels, Belgium., Decaestecker C; Digital Image Analysis in Pathology (DIAPath), Center for Microscopy and Molecular Imaging (CMMI), Université Libre de Bruxelles (ULB), Gosselies, Belgium; Laboratory of Image Synthesis and Analysis (LISA), Brussels School of Engineering/École Polytechnique de Bruxelles, Université Libre de Bruxelles (ULB), Ixelles, Belgium., Remmelink M; Department of Pathology, Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), CUB Hôpital Érasme, Route de Lennik, 808 1070 Brussels, Belgium., Salmon I; Department of Pathology, Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), CUB Hôpital Érasme, Route de Lennik, 808 1070 Brussels, Belgium., D'Haene N; Department of Pathology, Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), CUB Hôpital Érasme, Route de Lennik, 808 1070 Brussels, Belgium. Electronic address: nicky.dhaene@hubruxelles.be.

Journal Article; Validation Study , 2024

Microsatellite Instability and Loss of Heterozygosity as Prognostic Markers in Oral Squamous Cell Carcinoma: Molecular Mechanisms, Detection Techniques, and Therapeutic Strategies.

Arslan Bozdag L; Faculty of Science, Department of Biology, Gazi University, Ankara, Turkey.; Faculty of Dentistry, Department of Oral Pathology, Gazi University, Ankara, Turkey., Inan S; Tepebasi Oral Dental Health Centre, Ankara, Turkey., Elif Gultekin S; Faculty of Dentistry, Department of Oral Pathology, Gazi University, Ankara, Turkey.

Journal Article; Systematic Review , 2024

Luminal breast epithelial cells of BRCA1 or BRCA2 mutation carriers and noncarriers harbor common breast cancer copy number alterations.

Williams MJ; Computational Oncology, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York City, NY, USA.; The Halvorsen Center for Computational Oncology, Memorial Sloan Kettering Cancer Center, New York City, NY, USA., Oliphant MUJ; Department of Cell Biology, Ludwig Center at Harvard, Harvard Medical School (HMS), Boston, MA, USA., Au V; Department of Molecular Oncology, British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Liu C; Department of Molecular Oncology, British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Baril C; Department of Molecular Oncology, British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., O'Flanagan C; Department of Molecular Oncology, British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Lai D; Department of Molecular Oncology, British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Beatty S; Department of Molecular Oncology, British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Van Vliet M; Department of Molecular Oncology, British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Yiu JC; Department of Molecular Oncology, British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada., O'Connor L; Department of Cell Biology, Ludwig Center at Harvard, Harvard Medical School (HMS), Boston, MA, USA., Goh WL; Department of Cell Biology, Ludwig Center at Harvard, Harvard Medical School (HMS), Boston, MA, USA., Pollaci A; Department of Medical Oncology, Dana-Farber Cancer Institute (DFCI), Boston, MA, USA., Weiner AC; Computational Oncology, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York City, NY, USA.; The Halvorsen Center for Computational Oncology, Memorial Sloan Kettering Cancer Center, New York City, NY, USA., Grewal D; Computational Oncology, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York City, NY, USA.; The Halvorsen Center for Computational Oncology, Memorial Sloan Kettering Cancer Center, New York City, NY, USA., McPherson A; Computational Oncology, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York City, NY, USA.; The Halvorsen Center for Computational Oncology, Memorial Sloan Kettering Cancer Center, New York City, NY, USA., Norton K; Department of Cell Biology, Ludwig Center at Harvard, Harvard Medical School (HMS), Boston, MA, USA., Moore M; Department of Medical Oncology, Dana-Farber Cancer Institute (DFCI), Boston, MA, USA., Prabhakar V; Department of Pathology, Brigham and Women's Hospital (BWH), Boston, MA, USA., Agarwal S; Department of Surgery, Brigham and Women's Hospital (BWH), Boston, MA, USA., Garber JE; Department of Medical Oncology, Dana-Farber Cancer Institute (DFCI), Boston, MA, USA., Dillon DA; Department of Medical Oncology, Dana-Farber Cancer Institute (DFCI), Boston, MA, USA., Shah SP; Computational Oncology, Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York City, NY, USA. shahs3@mskcc.org.; The Halvorsen Center for Computational Oncology, Memorial Sloan Kettering Cancer Center, New York City, NY, USA. shahs3@mskcc.org., Brugge JS; Department of Cell Biology, Ludwig Center at Harvard, Harvard Medical School (HMS), Boston, MA, USA. joan_brugge@hms.harvard.edu., Aparicio S; Department of Molecular Oncology, British Columbia Cancer Research Centre, Vancouver, British Columbia, Canada. saparicio@bccrc.ca.; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada. saparicio@bccrc.ca.

Journal Article , 2024

Loss of Heterozygosity (LOH) Affecting HLA Genes in Breast Cancer: Clinical Relevance and Therapeutic Opportunities.

Garrido MA; Radiology Service, Virgen de la Nieves University Hospital, 18014 Granada, Spain., Navarro-Ocón A; Department of Biochemistry, Molecular Biology III and Immunology, School of Medicine, University of Granada, 18016 Granada, Spain.; Biosanitary Research Institute of Granada (ibs.GRANADA), 18012 Granada, Spain., Ronco-Díaz V; Department of Biochemistry, Molecular Biology III and Immunology, School of Medicine, University of Granada, 18016 Granada, Spain.; Department of Genomic Medicine, Pfizer-University of Granada-Andalusian Regional Government Centre for Genomics and Oncological Research (GENYO), 18016 Granada, Spain., Olea N; Radiology Service, Virgen de la Nieves University Hospital, 18014 Granada, Spain.; Biosanitary Research Institute of Granada (ibs.GRANADA), 18012 Granada, Spain.; Department of Radiology and Physical Medicine, School of Medicine, University of Granada, 18016 Granada, Spain.; CIBER of Epidemiology and Public Health (CIBERSP), 28034 Madrid, Spain., Aptsiauri N; Department of Biochemistry, Molecular Biology III and Immunology, School of Medicine, University of Granada, 18016 Granada, Spain.; Biosanitary Research Institute of Granada (ibs.GRANADA), 18012 Granada, Spain.

Journal Article; Review , 2024

Sarcomas arising in MEN1 patients: demonstrating LOH of the MEN1 locus and loss of menin expression.

van Leeuwaarde RS; Department of Endocrine Oncology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, The Netherlands. r.vanleeuwaarde@umcutrecht.nl., Halfdanarson TR; Division of Medical Oncology, Department of Oncology, Mayo Clinic, Rochester, MN, USA., Sudhakar SM; Department of Endocrine Oncology, Levine Cancer Institute, Atrium Health, Charlotte, NC, USA., Meijers RWJ; Department of Pathology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands., Folpe AL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA., Brosens LAA; Department of Pathology, UMC Utrecht, Utrecht University, Utrecht, The Netherlands.

Journal Article , 2024

Impact of clonal TP53 mutations with loss of heterozygosity on adjuvant chemotherapy and immunotherapy in gastric cancer.

Gu Y; Department of General Surgery, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; NHC Key Laboratory of Glycoconjugate Research, Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Fudan University, Shanghai, China., Sun M; NHC Key Laboratory of Glycoconjugate Research, Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Fudan University, Shanghai, China., Fang H; NHC Key Laboratory of Glycoconjugate Research, Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Fudan University, Shanghai, China.; Department of Gastrointestinal Surgery, Zhongshan Hospital, Fudan University, Shanghai, China., Shao F; Department of Oncology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Lin C; Department of Emergency Surgery, Zhongshan Hospital, Fudan University, Shanghai, China., Liu H; Department of Gastrointestinal Surgery, Zhongshan Hospital, Fudan University, Shanghai, China., Li H; Department of Gastrointestinal Surgery, Zhongshan Hospital, Fudan University, Shanghai, China., He H; Department of Emergency Surgery, Zhongshan Hospital, Fudan University, Shanghai, China., Li R; Department of Emergency Surgery, Zhongshan Hospital, Fudan University, Shanghai, China., Wang J; Department of Endoscopy, Fudan University Shanghai Cancer Center, Shanghai, China., Zhang H; Department of Gastrointestinal Surgery, Zhongshan Hospital, Fudan University, Shanghai, China., Xu J; NHC Key Laboratory of Glycoconjugate Research, Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Fudan University, Shanghai, China. jjxufdu@fudan.edu.cn.

Journal Article , 2024

Single-cell detection of copy number changes reveals dynamic mechanisms of adaptation to antifungals in Candida albicans.

Zhou X; Department of Microbiology and Immunology, University of Minnesota, Minneapolis, MN, USA., Hilk A; Department of Microbiology and Immunology, University of Minnesota, Minneapolis, MN, USA., Solis NV; Division of Infectious Diseases, Lundquist Institute for Biomedical Innovation at Harbor UCLA Medical Center, Torrance, CA, USA., Scott N; Department of Microbiology and Immunology, University of Minnesota, Minneapolis, MN, USA., Beach A; Department of Microbiology and Immunology, University of Minnesota, Minneapolis, MN, USA., Soisangwan N; Department of Microbiology and Immunology, University of Minnesota, Minneapolis, MN, USA., Billings CL; Gustavus Adolphus College, Department of Biology, Saint Peter, MN, USA., Burrack LS; Gustavus Adolphus College, Department of Biology, Saint Peter, MN, USA., Filler SG; Division of Infectious Diseases, Lundquist Institute for Biomedical Innovation at Harbor UCLA Medical Center, Torrance, CA, USA.; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Selmecki A; Department of Microbiology and Immunology, University of Minnesota, Minneapolis, MN, USA. selmecki@umn.edu.

Journal Article , 2024

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.

Bohlen J; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Bagarić I; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Heidelberg University, Heidelberg, Germany., Vatovec T; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Heidelberg University, Heidelberg, Germany., Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Ahmed SF; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., Cederholm A; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden., Buetow L; Cancer Research UK Scotland Institute, Glasgow, United Kingdom., Sobrino S; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Chromatin and Gene Regulation during Development, Paris Cité University, INSERM U1163, Imagine Institute, Paris, France.; Laboratory of Human Lymphohematopoiesis, INSERM U1163, Imagine Institute, Paris, France., Le Floc'h C; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Arango-Franco CA; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Seabra L; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Michelet M; Unit of Allergy and Pneumology, Children's Hospital, Toulouse, France., Barzaghi F; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Leardini D; Pediatric Hematology and Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Saettini F; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Vendemini F; Department of Pediatrics, Fondazione IRCCS San Gerardo, Monza, Italy., Baccelli F; Pediatric Hematology and Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Catala A; Pediatric Hematology and Oncology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain., Gambineri E; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.; Centre of Excellence, Division of Pediatric Oncology/Hematology, Meyer Children's Hospital IRCCS, Florence, Italy., Veltroni M; Centre of Excellence, Division of Pediatric Oncology/Hematology, Meyer Children's Hospital IRCCS, Florence, Italy., Aguilar de la Red Y; Pediatric Oncology and Hematology Department, Miguel Servet Hospital, Zaragoza, Spain., Rice GI; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom., Consonni F; Centre of Excellence, Division of Pediatric Oncology/Hematology, Meyer Children's Hospital IRCCS, Florence, Italy.; 'Mario Serio' Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy., Berteloot L; Department of Pediatric Imaging, Necker Hospital for Sick Children, Paris, France.; INSERM U1163, Paris, France., Largeaud L; Laboratory of Hematology, Hospital Center of the University of Toulouse, Toulouse, France., Conti F; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Department of Medical and Surgical Sciences, Alma Mater Studiorum, University of Bologna, Bologna, Italy., Roullion C; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Genomics Core Facility and., Masson C; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Bioinformatic Plateform, INSERM U1163 and INSERM US24/CNRS UAR3633, Paris Cité University, Paris, France., Bessot B; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.; Clinical Immunology Department, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France., Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-AP-HP, Paris, France., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Erazo-Borrás L; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Li H; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Janda Z; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Heidelberg University, Heidelberg, Germany., Cho EJ; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Heidelberg University, Heidelberg, Germany., Muratore E; Pediatric Hematology and Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Soudée C; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Lainé C; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Delabesse E; Department of Hematology, CHU and Centre de Recherche de Cancérologie de Toulouse, Paul-Sabatier University, Toulouse, France., Goulvestre C; Laboratory of Immunology, Cochin Hospital, Paris, France., Ma CS; Garvan Institute of Medical Research, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Sydney, Australia., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Tangye SG; Garvan Institute of Medical Research, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales Sydney, Sydney, Australia., André I; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France., Bole-Feysot C; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Genomics Core Facility and., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Erlacher M; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany., Zhang SY; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Lagresle-Peyrou C; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Biotherapy Clinical Investigation Center, Groupe Hospitalier Universitaire Ouest, AP-HP, INSERM, Paris, France., Six E; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; Laboratory of Human Lymphohematopoiesis, INSERM U1163, Imagine Institute, Paris, France., Pasquet M; Department of Pediatric Hematology and Oncology, Centre Hospitalo-Universitaire de Toulouse, Toulouse, France., Alsina L; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, Barcelona, Spain., Aiuti A; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.; Università Vita-Salute San Raffaele, Milan, Italy., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA., Crow YJ; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom., Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden., Masetti R; Unit of Allergy and Pneumology, Children's Hospital, Toulouse, France., Huang DT; Cancer Research UK Scotland Institute, Glasgow, United Kingdom.; School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.; Department of Pediatrics, Necker Hospital for Sick Children-AP-HP, Paris, France.; Howard Hughes Medical Institute, New York, New York, USA., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, INSERM U1163, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, New York, USA.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-AP-HP, Paris, France.

Journal Article , 2024

MHC Hammer reveals genetic and non-genetic HLA disruption in cancer evolution.

Puttick C; Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK.; Cancer Genome Evolution Research Group, Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK., Jones TP; Cancer Genome Evolution Research Group, Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK., Leung MM; Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK.; Cancer Genome Evolution Research Group, Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK., Galvez-Cancino F; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.; Cancer Immunology Unit, Immune Regulation and Tumour Immunotherapy Laboratory, Research Department of Haematology, University College London Cancer Institute, London, UK.; Immune Regulation and Immune Interactions Group, Centre for Immuno-Oncology, Nuffield Department of Medicine, University of Oxford, Oxford, UK., Liu J; Cancer Immunology Unit, Immune Regulation and Tumour Immunotherapy Laboratory, Research Department of Haematology, University College London Cancer Institute, London, UK., Varas-Godoy M; Cancer Cell Biology Laboratory, Centro de Biología Celular y Biomedicina (CEBICEM), Facultad de Medicina y Ciencia, Universidad San Sebastián, Santiago, Chile.; Centro Ciencia & Vida, Fundación Ciencia & Vida, Santiago, Chile., Rowan A; Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK., Pich O; Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK.; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK., Martinez-Ruiz C; Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK.; Cancer Genome Evolution Research Group, Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK., Bentham R; Cancer Genome Evolution Research Group, Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK., Dijkstra KK; Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK.; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.; Department of Molecular Oncology and Immunology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.; Oncode Institute, Utrecht, The Netherlands., Black JRM; Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK.; Cancer Genome Evolution Research Group, Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK., Rosenthal R; Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK., Kanu N; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK., Litchfield K; Tumour Immunogenomics and Immunosurveillance Laboratory, University College London Cancer Institute, London, UK., Salgado R; Division of Research, Peter MacCallum Cancer Centre, Melbourne, Australia.; Department of Pathology, ZAS Hospitals, Antwerp, Belgium., Moore DA; Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK.; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.; Department of Cellular Pathology, University College London Hospitals, London, UK., Van Loo P; Cancer Genomics Laboratory, The Francis Crick Institute, London, UK.; Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX, USA., Jamal-Hanjani M; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.; Cancer Metastasis Laboratory, University College London Cancer Institute, London, UK.; Department of Medical Oncology, University College London Hospitals, London, UK., Quezada SA; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.; Cancer Immunology Unit, Immune Regulation and Tumour Immunotherapy Laboratory, Research Department of Haematology, University College London Cancer Institute, London, UK., Swanton C; Cancer Evolution and Genome Instability Laboratory, The Francis Crick Institute, London, UK. charles.swanton@crick.ac.uk.; Cancer Genome Evolution Research Group, Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK. charles.swanton@crick.ac.uk.; Department of Medical Oncology, University College London Hospitals, London, UK. charles.swanton@crick.ac.uk., McGranahan N; Cancer Genome Evolution Research Group, Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK. nicholas.mcgranahan.10@ucl.ac.uk.; Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK. nicholas.mcgranahan.10@ucl.ac.uk.

TRACERx Consortium

Journal Article , 2024

Bayesian Phylogenetic Lineage Reconstruction with Loss of Heterozygosity Mutations Derived from Single-Cell RNA Sequencing

Anderson, Donovan J.^Aff4, Horwitz, Marshall S.^Aff4

García-Marqués, Jorge^Aff2, Lee, Tzumin^Aff3, Walker, John M.^Aff1

The Importance of Confirming False Homozygosity in Pretransplant HLA Typing Results of Patients with Hematologic Malignancies.

Lee MY; Department of Laboratory Medicine, Kyung Hee University College of Medicine and Kyung Hee University Hospital at Gangdong, Seoul, Korea., You E; Department of Laboratory Medicine, Inje University College of Medicine, Busan Paik Hospital, Busan, Korea.

Journal Article; Case Reports , 2024