Results 31 to 40 of about 930 (131)

Additional file 7 of Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

, 2022
Additional file 7: Table S3.
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

A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12

Journal of Pediatric Genetics, 2019
Nephronophthisis (NPHP) is one of the renal ciliopathies and is also a cystic renal disorder with an autosomal recessive inheritance, which usually progresses to end-stage renal disease (ESRD). It affects children, adolescents, and young adults.
W. A. E. Abo El Fotoh, Amira Fathy Al-fiky   +1 more
semanticscholar   +4 more sources

TTC21B: From Modifier to Causative Gene in Joubert Syndrome.

American Journal of Medical Genetics. Part A
Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies.
Valentina Serpieri, F. D'Abrusco, A. Pichiecchio, Thouraya Benyounes, I. Kraoua, E. Valente   +5 more
semanticscholar   +2 more sources

Gpr63 is a novel modifier of microcephaly in Ttc21b mouse mutants [PDF]

bioRxiv, 2018
The primary cilium is a critical signaling center for proper embryonic development. Previous studies have demonstrated that mice lacking Ttc21b have impaired retrograde trafficking within the cilium and multiple organogenesis phenotypes, including ...
John Snedeker, W. Gibbons, D. Prows, R. Stottmann   +3 more
semanticscholar   +2 more sources

IFT139 regulates Hedgehog signaling and cilia structure through ciliary protein localization [PDF]

Biol Open
The primary cilium, a microtubule-based membrane protrusion, is essential for eukaryotic development and health. Import and export of proteins in and out of the primary cilium relies on intraflagellar transport protein complexes (IFT) IFT-B and IFT-A, in
Khatija Nishat, Zachary T. Klug, Jannatul Faimma Mia, Sarain Stump, Yulu Cherry Liu   +4 more
semanticscholar   +2 more sources

Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain

Developmental Biology, 2009
Organizing centers in the developing brain provide an assortment of instructive patterning cues, including Sonic hedgehog (Shh). Here we characterize the forebrain phenotype caused by loss of Ttc21b, a gene we identified in an ENU mutagenesis screen as a
Rolf W. Stottmann, P. V. Tran, Annick Turbe-Doan, D. Beier   +3 more
semanticscholar   +3 more sources

Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus

Taiwanese Journal of Obstetrics & Gynecology, 2018
Objective: We present the perinatal imaging findings and molecular genetic analysis in a fetus with short-rib polydactyly syndrome (SRPS) type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3).
Chih-Ping Chen, Tsang-Ming Ko, Tung-Yao Chang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang   +7 more
doaj   +2 more sources

Two novel mutations in TTC21B gene, c.497del and c.2323-3T>A, identified in a Chinese patient [PDF]

, 2020
Methods A whole-exome sequencing end stage renal disease patient whose original renal disease is unknown. Swiss model predict the 3D structure of the protein.
Xia Gao, Lingna Shi, Xin Liao, Q. Du, Haiyan Zhao, Lili Wang, Jing Zhang   +6 more
semanticscholar   +2 more sources

Familial chronic cholestasis associated with renal insufficiency and a TTC21B Gene Mutation: A family case report

International Journal of Science and Research Archive
Introduction: Familial chronic cholestases associated with renal involvement are rare and may reveal a genetic disease such as a ciliopathy. The TTC21B gene, involved in intraflagellar transport, is mainly associated with tubulointerstitial and ...
Chafif O., Cherkaoui M. Malki, M. S, C. O, B. N., E. I., Bacha H. El   +6 more
semanticscholar   +2 more sources

Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome

Disease Models & Mechanisms, 2016
Primary cilia extend from the plasma membrane of most vertebrate cells and mediate signaling pathways. Ciliary dysfunction underlies ciliopathies, which are genetic syndromes that manifest multiple clinical features, including renal cystic disease and ...
Damon T. Jacobs, Luciane M. Silva, Bailey A. Allard, Michael P. Schonfeld, Anindita Chatterjee, George C. Talbott, David R. Beier, Pamela V. Tran   +7 more
doaj   +2 more sources