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Contribution of the TTC21B gene to glomerular and cystic kidney diseases [PDF]

Nephrology Dialysis Transplantation, 2016
Background. The TTC21B gene was initially described as causative of nephronophthisis (NPHP). Recently, the homozygous TTC21B p.P209L mutation has been identified in families with focal segmental glomerulosclerosis (FSGS) and tubulointerstitial lesions. Heterozygous TTC21B variants have been proposed as genetic modifiers in ciliopathies.
Gemma Bullich, Iván Vargas, D. Trujillano, S. Mendizábal, J. Piñero-Fernández, G. Fraga, J. García-Solano, J. Ballarín, X. Estivill, R. Torra, E. Ars   +10 more
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[Clinical phenotype analysis of 6 cases of TTC21B gene related nephronophthisis].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2022
Objective: To analyze the clinical characteristics of 6 children with TTC21B-related nephronophthisis to provide reference for early clinical diagnosis. Methods: The general condition, clinical manifestations, laboratory tests and other clinical data of 6 children from 4 families diagnosed with nephronophthisis by genetic testing in Shanghai Children's
J. Zhang, L. Sun, X.-Y. Kuang, Y. Kang, S. Hao, D. Feng, Xiao-Ling Niu, W.-Y. Huang   +7 more
semanticscholar   +3 more sources

Perdurant TTC21B protein in the early mouse embryo is required for proper forebrain neural progenitor proliferation

bioRxiv
ABSTRACT Primary cilia play a pivotal role in cellular signaling and development and disruptions in ciliary form and/or function leads to human ciliopathies. Here, we examine the role of Ttc21b , a key component of the intraflagellar transport-A complex, in mouse forebrain ...
Rebekah Niewoehner, David Paulding, Jesus M. Leal, R. Stottmann   +3 more
semanticscholar   +3 more sources

[Clinical features and TTC21B genotype of a child with nephronophthisis type 12].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2019
Nephronophthisis (NPHP) is a group of autosomal recessive tubulointerstitial cystic kidney disorders. This article reports a case of NPHP type 12 caused by TTC21B mutations. The girl had an insidious onset, with moderate proteinuria, renal dysfunction, stage 2 hypertension, situs inversus, and short phalanges when she visited the hospital for the first
Shan, Jian, Qi-Jiao, Wei, Yu-Tong, Liu, Wei, Wang, Yu, Zhou, Mei-Ying, Quan, Yan-Yan, He, Hong-Mei, Song, Min, Wei   +8 more
openaire   +1 more source

958 Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease

British Association for Community Child Health, 2022
Pran Phakdeekitcharoen, Eric Olinger, Yasar Caliskan, Holly Mabillard, Charles Pickles, Yincent Tse, Katrina Wood, John Sayer   +7 more
openaire   +1 more source

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Faculty Opinions recommendation of Ttc21b deficiency attenuates autosomal dominant polycystic kidney disease in a kidney tubular- and maturation-dependent manner.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2022
Albert Ong, Ming-Yang Chang
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A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12

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Ttc21b is required for proper proliferation of neural progenitor cells Open Access

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