Results 81 to 90 of about 4,891 (195)

Common Founder mutations in the COL4A5, COL4A3 and COL4A4 genes.

, 2016
Common Founder mutations in the COL4A5, COL4A3 and COL4A4 genes.
Hee Gyung Kang (3120111), Mato Nagel (6470), Hae Il Cheong (191547), Eujin Park (3120096), Jens Michael Hertz (2636689), Judith Savige (3120114), Dongmao Wang (3120108), Anton Persikov (3120117), Carmen Torres-Fernandez (3120120), Roser Torra (332940), Frances Flinter (3120102), Pascale Hilbert (3120105), Lev Shagam (3120093), Mads Thomassen (395200), Helen Storey (3120099), Elisabet Ars (129410), Yanyan Wang (329749)   +16 more
core   +1 more source

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review

Molecular Genetics & Genomic Medicine
Background Alport syndrome involves chronic progressive kidney failure and extrarenal organ damage caused by COL4A3, COL4A4, and COL4A5 mutations. Methods We initially discerned a COL4A3 splicing mutation via next‐generation sequencing.
Dan Chen, Li Zhang, Jing Rao, Yan Zhou, Lujun Dai, Songsong Huang, Chunxia Yang, Qiuhan Bian, Tao Zhang, Xiaoyan Yang   +9 more
doaj   +1 more source

The Age‐Dependent Resident Myonuclear Multi‐Omic Response to an Acute Skeletal Muscle Hypertrophic Stimulus in Mice

Advanced Science, Volume 13, Issue 25, 4 May 2026.
Resident myonuclei are the molecular “control centers” for large multinuclear muscle fibers. It is presumed that, with aging, these control centers become compromised and contribute to delayed or blunted muscle adaptive potential. This study is a detailed roadmap that exposes how young versus aged myonuclei respond to a hypertrophic loading stimulus ...
Pieter J. Koopmans, Ronald G. Jones III, Ana Regina Cabrera, Francielly Morena, Nicholas P. Greene, John J. McCarthy, Ahmed Ismaeel, Yuan Wen, Kevin A. Murach   +8 more
wiley   +1 more source

Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China

Frontiers in Genetics
BackgroundAlport syndrome (AS) is an inherited disorder affecting basement membrane collagen IV. AS is characterized by hematuria and progressive renal failure, accompanied by high-frequency sensorineural deafness and ocular changes.
Cong Zhou, Cong Zhou, Yuanyuan Xiao, Yuanyuan Xiao, Xing Wei, Xing Wei, Jing Wang, Jing Wang, Shanling Liu, Shanling Liu   +9 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique

Molecular Genetics & Genomic Medicine, 2019
Background Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine PCR ...
Xuechao Zhao, Chen Chen, Yanfu Wei, Ganye Zhao, Lina Liu, Conghui Wang, Junjun Zhang, Xiangdong Kong   +7 more
doaj   +1 more source

Generation cycles in experimental populations of a multivoltine insect

Journal of Animal Ecology, Volume 95, Issue 5, Page 782-794, May 2026.
Although theory suggests various mechanisms by which environmental and ecological factors may drive generational fluctuations, our field‐cage experiment is the first to demonstrate how internal dynamics and external disturbances jointly produce synchronised, large‐scale outbreak cycles.
Takehiko Yamanaka, Yasushi Sato, William A. Nelson, Ottar N. Bjørnstad   +3 more
wiley   +1 more source

Large mammal recovery in the wake of human population decline

Journal of Applied Ecology, Volume 63, Issue 5, May 2026.
Human depopulation, particularly in rural areas, has contributed to the recovery of some large mammal populations. While recovery is generally good news for conservation, it can also lead to human‐wildlife conflict. We present several avenues to maximize coexistence in the face of further rural depopulation in other places. Read the free Plain Language
Alex J. Jensen, Benjamin R. Goldstein, Keita Fukasawa, Fabiola Iannarilli, Roland Kays   +4 more
wiley   +1 more source

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil

BMC Genomics
Background Alport syndrome is a progressive and hereditary nephropathy characterized by hematuria and proteinuria as well as extra renal manifestations as hearing loss and eye abnormalities.
Washington Candeia de Araújo, Raul Maia Falcão, Raquel Araujo Costa Uchoa, Carlos Alexandre Garcia, Arthur Quintiliano Bezerra da Silva, Kesia Larissa Medeiros Quirino, Francisco Paulo Freire-Neto, Genilson Pereira Gurgel, Paulo Ricardo Porfirio Nascimento, Leonardo Capistrano Ferreira, Priya Duggal, Jorge Estefano S. de Souza, Selma M. B. Jeronimo   +12 more
doaj   +1 more source

Alport syndrome: Expanding diagnosis and treatment

Pediatrics and Neonatology
Alport syndrome (AS) is the second common monogenic cause of end-stage kidney disease (ESKD) worldwide and is caused by defective type 4 collagen due to pathogenic variants of COL4A3, COL4A4, or COL4A5.
Hou-Xuan Huang, I-Jung Tsai, Larry A. Greenbaum   +2 more
doaj   +1 more source