Sökresultat - "Nephronophthisis"

SOX9-dependent fibrosis drives renal function in nephronophthisis

Patel, Maulin Mukeshchandra, Gerakopoulos, Vasileios, Lettenmaier, Bryan, Petsouki, Eleni, Zimmerman, Kurt A, Sayer, John A^{Aff3, Aff4, Aff5}, Tsiokas, Leonidas^{Aff1, IDs44321025002333_cor1}

Granulomatous nephropathy: have you thought about genetics?

Vedrine, Enzo^{Aff1, IDs00467025067411_cor1}, Bessenay, Lucie, Philipponnet, Carole, Dancer, Marine, Bertholet-Thomas, Aurelia

Diseases of the primary cilia: a clinical characteristics review

Alzarka, Bakri, Charnaya, Olga, Gunay-Aygun, Meral^{Aff3, IDs0046702406528w_cor1}

Calpain1 inhibition enhances autophagy-lysosomal pathway and ameliorates tubulointerstitial fibrosis in Nephronophthisis

Dantong Li, Jinglan Zhang, Xinyu Su, Yichen Yang, Jiayong Lai, Xiaoya Wei, Huamu Chen, Yaqing Liu, Haiyan Wang, Liangzhong Sun

electronic resource

Visa

Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation

Bartol-Puyal, Francisco de Asís^{Aff1, Aff2, Aff3, IDs10633024099965_cor1}, Cordón, Beatriz^{Aff1, Aff2, Aff4}, Viladés, Elisa^{Aff1, Aff2}, Méndez-Martínez, Silvia, Ruiz Moreno, Óscar^{Aff1, Aff2}, Pablo, Luis^{Aff1, Aff2, Aff4}

Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis

Hellmann, Carlotta, Wohlgemuth, Kai, Pennekamp, Petra, George, Sebastian, Dahmer-Heath, Mareike, Konrad, Martin, Omran, Heymut, König, Jens^{Aff1, IDs00467024064430_cor8}

Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report

Tanaka, Yu, Horinouchi, Tomoko^{Aff1, IDs13730024008715_cor2}, Inoki, Yuta, Ichikawa, Yuta, Ueda, Chika, Kitakado, Hideaki, Kondo, Atsushi, Sakakibara, Nana, Nagano, China, Yano, Yoshihiko, Yoshikawa, Norishige, Morisada, Naoya^{Aff1, Aff4}, Nozu, Kandai

Verwirrte Zilien – Zystennieren und hepatobiliäre Beteiligung

Confused cilia—Polycystic kidney disease and hepatobiliary involvement

Kemper, Markus J.^{Aff1, IDs0011202402011w_cor1}, Brinkert, Florian

Nephronophthisis: a pathological and genetic perspective

Wolf, Matthias T. F.^{Aff1, Aff2, IDs00467023061748_cor1}, Bonsib, Stephen M., Larsen, Christopher P., Hildebrandt, Friedhelm

Case report of a child with nephronophthisis from South Africa

Bhimma, Rajendra^{Aff1, IDs12887024048722_cor1}, Jembere, Edgar, Hariparshad, Sudesh

Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure

Esson, Gavin, Logan, Ian, Wood, Katrina, Browning, Andrew C., Sayer, John A.^{Aff1, Aff4, Aff5, IDs44162024000314_cor5}

Kibra knockdown inhibits the aberrant Hippo pathway, suppresses renal cyst formation and ameliorates renal fibrosis in nphp1KO mice

Yichen Yang, Zhihe Xue, Jiayong Lai, Jinglan Zhang, Changmiao Pang, Jinglin Zhong, Zhanpeng Kuang, Baojuan Zou, Yaqing Liu, Liangzhong Sun

electronic resource

Visa

Ocular manifestations of renal ciliopathies

Salehi, Omar, Mack, Heather, Colville, Deb, Lewis, Debbie, Savige, Judy^{Aff1, IDs00467023060965_cor5}

Senior–Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management

Di Zhou, Yi Zeng, Weihan Luo, Chenyang Leng, Chen Li

electronic resource

Visa; Visa

Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis

Tata, Alice ¹, Rocha, Guillaume ¹, Hureaux, Marguerite ¹, Serafin, Alice S. ¹, Porée, Esther ¹, Menguy, Lucie ¹, Goudin, Nicolas ², Cagnard, Nicolas ³, Gréau, Lilian ⁴, Fila, Marc ⁵, Briseño-Roa, Luis ⁶, Annereau, Jean-Philippe ⁶, Saunier, Sophie ¹, Benmerah, Alexandre ^{1, ∗}

Human Genetics of Defects of Situs

Perrot, Andreas^Aff10, Rickert-Sperling, Silke^Aff11

Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Steinlein, Ortrud, Series Editor^Aff5, Xiao, Junjie, Series Editor^Aff6, Rickert-Sperling, Silke, editor^Aff7, Kelly, Robert G., editor^Aff8, Haas, Nikolaus, editor^Aff9

Isolation and Proteomic Analysis of Chlamydomonas Centrioles

Keller, Lani C^Aff4, Marshall, Wallace F^Aff4

Pflieger, Delphine^Aff3, Rossier, Jean^Aff2, Walker, John M.^Aff1

Patient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation

Yutaka Arai, Hidenori Ito, Tomoya Shimizu, Yuzuno Shimoda, Dan Song, Mami Matsuo-Takasaki, Tadayoshi Hayata, Yohei Hayashi

electronic resource

Visa; Visa

Renal cell carcinoma in an adult-onset ESRD patient with nephronophthisis harboring NPHP3 deletion: A case report

Zuo-Lin Li, Feng-Mei Wang, Yi Wen, Hai-Feng Ni, Xiao-Liang Zhang, Bin Wang

electronic resource

Visa; Visa

Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP

Li, Jianyi, Su, Xiaojun, Zhang, Huanxi, Wu, Wenrui, Li, Jianming, Chen, Yanxu, Li, Jun, Fu, Qian, Wu, Chenglin, Zhong, Xuhui^{Aff2, IDs00467022057633_cor10}, Wang, Changxi^{Aff1, Aff3, Aff4, IDs00467022057633_cor11}, Liu, Longshan^{Aff1, IDs00467022057633_cor12}