Results 21 to 30 of about 930 (131)

Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B

Internal Medicine, 2020
Mutations in the TTC21B gene have been identified in patients with nephronophthisis and were recently found in some patients with focal segmental glomerulosclerosis. We herein report a Japanese boy with end-stage renal disease due to medullary polycystic
Satoshi Hibino, Kandai Nozu
exaly   +5 more sources

Genetic exploration of Dravet syndrome: two case report [PDF]

Journal of Medical Case Reports
Background Dravet syndrome is an infantile-onset developmental and epileptic encephalopathy (DEE) characterized by drug resistance, intractable seizures, and developmental comorbidities.
Agung Triono, Elisabeth Siti Herini, Gunadi   +2 more
doaj   +3 more sources

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases

BMC Medical Genomics, 2023
Background Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally ...
Yayun Qin, Yanyi Yao, Nian Liu, Bo Wang, Lijun Liu, Hui Li, Tangxinzi Gao, Runhong Xu, Xiaoyan Wang, Fanglian Zhang, Jieping Song   +10 more
doaj   +3 more sources

Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis [PDF]

Renal Failure
Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disorder. Between 85% and 90% of cases result from variations in the PKD1 and PKD2 genes.
Hande Aypek, Rumeysa Fatma Balaban, Nuseybe Huriyet, Ebrucan Bulut, Gulsah Cecener, Suat Akgur, Orhan Gorukmez, Ufuk Unal, Guven Ozkaya, Alparslan Ersoy, Aysegul Oruc, Cuma Bulent Gul, Abdulmecit Yildiz   +12 more
doaj   +3 more sources

Corrigendum to "Ttc21b deficiency attenuates autosomal dominant polycystic kidney disease in a kidney tubular- and maturation-dependent manner." Kidney Int. 2022;102:577-591. [PDF]

Kidney Int, 2023
Wei Wang, Luciane M. Silva, Henry H. Wang, Matthew A. Kavanaugh, Tana S. Pottorf, Bailey A. Allard, Damon T. Jacobs, Rouchen Dong, Joseph T. Cornelius, Aakriti Chaturvedi, Katherine I. Swenson-Fields, T. Fields, M. Pritchard, Madhulika Sharma, Chad Slawson, D. Wallace, J. Calvet, P. V. Tran   +17 more
semanticscholar   +4 more sources

Syndromic ciliopathy: a taiwanese single-center study [PDF]

BMC Medical Genomics
Background Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pathophysiology
Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai   +10 more
doaj   +3 more sources

Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development. [PDF]

PLoS ONE, 2017
Primary cilia are organelles extended from virtually all cells and are required for the proper regulation of a number of canonical developmental pathways.
John Snedeker, Elizabeth N Schock, Jamie N Struve, Ching-Fang Chang, Megan Cionni, Pamela V Tran, Samantha A Brugmann, Rolf W Stottmann   +7 more
doaj   +2 more sources

A tissue-specific role for intraflagellar transport genes during craniofacial development. [PDF]

PLoS ONE, 2017
Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. Loss of functional primary cilia has a particularly profound effect on the developing craniofacial complex, causing several ...
Elizabeth N Schock, Jaime N Struve, Ching-Fang Chang, Trevor J Williams, John Snedeker, Aria C Attia, Rolf W Stottmann, Samantha A Brugmann   +7 more
doaj   +2 more sources

Additional file 1 of Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

, 2022
Additional file 1: Table S1.
Xinyan Zhang (655654), Weijia Zeng (9724088), Feifei Wang (195514), Xiangyu Zhou (309509), Weicheng Chen (9441520), Libing Shen (403624), Yuan Zhang (41832)   +6 more
core   +2 more sources

Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance [PDF]

Diagnostics
Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare liver disorder that, although typically present in childhood, can also occur in adulthood.
Amalia Conti, Filippo Gabrielli, Simona Ferrari, Alessandro Vaisfeld, Claudia De Masi, Francesco Azzaroli, Fabio Piscaglia, Giovanni Vitale   +7 more
doaj   +2 more sources