Results 61 to 70 of about 1,877 (178)

Features of the LCRs at the human NPHP1 locus.

, 2016
Features of the LCRs at the human NPHP1 locus.
David C. Schwartz (256989), Alexandra D. Simmons (668159), Marjorie A. Withers (207968), Tomasz Gambin (39373), R. Alan Harris (67344), Ian M. Campbell (463357), Anusha Tejomurtula (834554), Christine R. Beck (699745), Pengfei Liu (136115), Jeffrey Rogers (111351), Bo Yuan (26238), Aditya Gupta (831245), James R. Lupski (6678)   +12 more
core   +1 more source

Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization

Genomics Data, 2016
Array comparative genomic hybridization (aCGH) has been widely used to detect copy number variants (CNVs) in both research and clinical settings. A customizable aCGH platform may greatly facilitate copy number analyses in genomic regions with higher ...
Bo Yuan, Pengfei Liu, Jeffrey Rogers, James R. Lupski   +3 more
doaj   +1 more source

Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome

Frontiers in Genetics, 2022
Prenatal imaging phenotypes and genotypes were analyzed in 13 cases prenatally diagnosed with Joubert syndrome (JS), all of which underwent magnetic resonance imaging (MRI), ultrasound, and genetic testing.
Ling-Xi Huang, Xian-Gui Lu, Jiao-Xiang Liu, Ling Xu, Ning Shang, Li Guo, Yan-Chun OuYang   +6 more
doaj   +1 more source

Chronic Hypoxia Disrupts Spermatogenesis Through ASXL2–EZH2–Mediated Microtubule Destabilization

Advanced Science, Volume 13, Issue 26, 8 May 2026.
This study reveals the mechanism by which chronic hypoxia impairs spermatogenesis via the ASXL2–EZH2 axis, hindering the transition of spermatids from round to elongated forms. Key findings reveal that under hypoxic conditions, downregulated ASXL2 expression reduces EZH2 binding to the CEP162 promoter, leading to decreased H3K27me3 modification and ...
Jun Yin, Mengjie Zhang, Wenying Liu, Wenlong Shen, Debao Li, Hongming Miao, Fang Deng, Gang Zhang, Yi Tian, Yi Zhang, Zhihu Zhao, Bing Ni   +11 more
wiley   +1 more source

Spata7 is required for maintenance of the retinal connecting cilium

Scientific Reports, 2022
SPATA7, an early onset LCA3 retinal disease gene, encodes a putative scaffold protein that is essential for the proper assembly of the connecting cilium (CC) complex in photoreceptors.
Jiaxiong Lu, Kaitlyn Xiong, Xinye Qian, Jongsu Choi, Yoon-Kyung Shim, Jacob Burnett, Graeme Mardon, Rui Chen   +7 more
doaj   +1 more source

Plk1 associates with NPHP1.

, 2012
A Western blot of immunoprecipitates (IP) or lysates (Lys) from HEK293T cells co-transfected with plasmids expressing V5-tagged NPHP1 and Flag-tagged Plk1 or negative control protein (Eps1–225 [13]). β-actin was assessed as a loading control.
Tamina Seeger-Nukpezah (159345), Erica A. Golemis (159379), Katja Höpker (159359), Max C. Liebau (159351), Thomas Benzing (159371), Bernhard Schermer (159386), Tobias Lamkemeyer (159366)   +6 more
core   +1 more source

Ciliary Defects in Inherited Retinal Diseases

Advanced Genetics, Volume 7, Issue 1, March 2026.
The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, Volume 109, Issue 3, Page 529-538, March 2026.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Agonists of prostaglandin E(2) receptors as potential first in class treatment for nephronophthisis and related ciliopathies

, 2022
Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as the most common cause of hereditary end-stage renal disease in children. Yet, no curative treatment is available. The major
Roy, Stéphanie, Serafin, Alice S., Serafin, Alice, Viau, Amandine, Deleglise, Bérangère, Annereau, Jean-Philippe, Del Nery, Elaine, Benmerah, Alexandre, Birgy, Éléonore, Sin-Monnot, Soraya, Porée, Esther, Billot, Katy, Krug, Pauline, Lyonnet, Stanislas, Briseño-Roa, Luis, Saunier, Sophie, Rodriguez, Pamela C., Ceccarelli, Salomé, Garcia, Hugo, Cagnard, Nicolas, Furio, Laetitia, Mahaut, Clémentine, Rodriguez, Pamela, Jabot-Hanin, Fabienne, Fila, Marc, Salomon, Rémi, Delous, Marion, Silbermann, Flora, Garfa-Traore, Meriem, Antignac, Corinne, Mehraz, Manon   +30 more
core   +1 more source

Australian Standards of Care for Genetic and Genomic Testing in Kidney Disease, Chapter 5

Internal Medicine Journal, Volume 56, Issue S5, Page 18-20, November 2026.
Sadia Jahan, Julia Jefferis, Jacqueline Soraru, Chirag Patel, Erik Biros, Trudie Harris, Kushani Jayasinghe, Amali Mallawaarachchi, Zornitza Stark, Andrew J. Mallett, on behalf of the KidGen Guidelines Working Group   +10 more
wiley   +1 more source