Results 71 to 80 of about 3,403 (162)

Genotype and Outcome After Kidney Transplantation in Alport Syndrome

Kidney International Reports, 2018
Introduction: Alport syndrome (AS) is caused by mutations in α3/α4/α5 (IV) collagen genes, the severity of which determine the progression of AS.
Valentine Gillion, Karin Dahan, Jean-Pierre Cosyns, Pascale Hilbert, Michel Jadoul, Eric Goffin, Nathalie Godefroid, Martine De Meyer, Michel Mourad, Yves Pirson, Nada Kanaan   +10 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

Integrated network toxicology and multi-omics profiling reveal cell cycle, DNA damage repair, and metabolic alterations in cyclophosphamide-induced premature ovarian insufficiency

Frontiers in Pharmacology
BackgroundCyclophosphamide (CTX)-induced chemotherapy injury is a leading iatrogenic cause of premature ovarian insufficiency (POI) and a major barrier to fertility preservation.
Zhaoyang Yu, Zhaoyang Yu, Lidan Liu, Xiqian Zhang, Ying Li, Yingqi Nong, Lingyu Ke, Mujun Li, Yuxia Wang, Huimei Wu, Fenghua Liu   +10 more
doaj   +1 more source

From clinical mimicry to accurate diagnosis: COL4A4-associated nephropathy hidden behind polycystic kidney disease

Nefrología (English Edition)
Type IV collagen related nephropathy caused by heterozygous variants in the COL4A3 or COL4A4 genes shows a wide phenotypic variability, with asymptomatic individuals being relatively common.
María del Mar del Águila García, Antonio M. Poyatos Andújar, Ana I. Morales García, María del Carmen Velázquez de Castro del Pino, María José Espigares Huete, Rafael J. Esteban de la Rosa   +5 more
doaj   +1 more source

Data_Sheet_1_A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.docx

, 2023
IntroductionRomani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes that are affected in Alport syndrome (AS), a common cause of genetic kidney disease ...
Pavlina Plevova (14585267), Eva Kantorova (14585306), Petra Kuhnova (14585273), Tomas Tichy (2296561), Jana Lastuvkova (5219471), Monika Kudrejova (14585285), Dana Thomasova (14585309), Judy Savige (4245745), Josef Gut (14585297), Marketa Vlckova (5185685), Pavla Solarova (14585300), Jana Zapletalova (5435576), Helena Jahnova (8675394), Jana Soukalova (3739108), Petra Tvrda (14585276), Daniela Polendova (14585288), Jiri Dusek (689735), Martina Langova (14585294), Gabriela Kreckova (14585303), Sarka Hilscherova (14585282), Jana Indrakova (14585270), Dita Cerna (14585279), Radka Jaklova (14585291), Rastislav Slavkovsky (4823946)   +23 more
core   +1 more source

Alport’s Syndrome

Turkish Journal of Nephrology, 2019
Alport’s syndrome is a hereditary kidney disease, frequently associated with hearing loss and ocular abnormalities. Type IV collagen is the main constituent of the basement membranes.
Tayfun AKALIN, M. Deniz AYLI, Ekrem ABAYLI   +2 more
doaj  

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

Del mimetismo clínico al diagnóstico certero: nefropatía asociada a COL4A4 oculta tras poliquistosis renal

Nefrología
Resumen: La nefropatía asociada al colágeno tipo IV por variantes en heterocigosis en los genes COL4A3 o COL4A4 presenta una amplia variabilidad fenotípica, siendo frecuente la presencia de individuos asintomáticos. El fenotipo quístico en estos casos es
María del Mar del Águila García, Antonio M. Poyatos Andújar, Ana I. Morales García, María del Carmen Velázquez de Castro del Pino, María José Espigares Huete, Rafael J. Esteban de la Rosa   +5 more
doaj   +1 more source

Association analysis of single nucleotide polymorphisms (SNPs) across the COL4A4 and RHBDD1 gene regions in 574 patients and 608 controls.

, 2012
The upper panels depict distribution of association results of D2S0276i and SNPs in COL4A4 and RHBDD1. The results of monomorphic SNPs are not shown. The lower panels show the linkage disequilibrium structure in the COL4A4 and RHBDD1 regions; brighter ...
Akira Oka (157163), Hidetoshi Inoko (3038), Eiichi Okada (157147), Norihiko Ito (157107), Tomoko Shiota (157151), Yuta Hagihara (157156), Nobuhisa Mizuki (46911), Hidenao Ideta (157093), Masao Ota (157102), Junichi Yonemoto (157120), Akira Meguro (157086), Riyo Uemoto (157132), Masaki Takeuchi (157127), Ryuichi Ideta (157112), Tadayuki Nishide (157137), Tatsukata Kawagoe (157144), Yasuhito Iijima (157141)   +16 more
core   +1 more source

Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome

, 2023
Background: Alport syndrome is a hereditary disorder caused by pathogenic variants in the COL4A gene, which can be inherited in an autosomal recessive, dominant, or X-linked pattern.
Lily Bazak, Idit Maya, Lina Basel-Salmon, Michal Levy, Rotem Greenberg, Noa Lev-El, Nesia Kropach   +6 more
core   +1 more source