Results 21 to 30 of about 3,450 (166)

Endoplasmic Reticulum Stress Activation in Alport Syndrome Varies Between Genotype and Cell Type

Frontiers in Genetics, 2020
Alport syndrome is a hereditary progressive chronic kidney disease caused by mutations in type IV collagen genes COL4A3/4/5. X-linked Alport syndrome (XLAS) is caused by mutations in the COL4A5 gene and is the most common form of Alport syndrome.
Cong Wang, Shenghui Liang, Shijia Xing, Ke Xu, Huijie Xiao, Haiyue Deng, Xiaoyuan Wang, Liangyi Chen, Jie Ding, Fang Wang   +9 more
doaj   +1 more source

Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene

Frontiers in Pediatrics, 2023
X-Linked Alport Syndrome (XLAS) is an X-linked, dominant, hereditary nephropathy mainly caused by mutations in the COL4A5 gene, found on chromosome Xq22. In this study, we reported a pedigree with XLAS caused by a COL4A5 mutation.
Nengqing Liu, Xiaojun Wen, Zhanhui Ou, Xiaowu Fang, Jing Du, Xiufeng Lin, Xiufeng Lin   +6 more
doaj   +1 more source

X-Linked Glomerulopathy Due to COL4A5 Founder Variant [PDF]

American Journal of Kidney Diseases, 2018
Alport syndrome is a rare hereditary disorder caused by rare variants in 1 of 3 genes encoding for type IV collagen. Rare variants in COL4A5 on chromosome Xq22 cause X-linked Alport syndrome, which accounts for ∼80% of the cases. Alport syndrome has a variable clinical presentation, including progressive kidney failure, hearing loss, and ocular defects.
Barua M., John R., Stella L., Li W., Roslin N. M., Sharif B., Hack S., Lajoie-Starkell G., Schwaderer A. L., Becknell B., Wuttke M., Kottgen A., Cattran D., Paterson A. D., Pei Y.   +14 more
openaire   +3 more sources

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. [PDF]

PLoS ONE, 2016
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants in these genes from individuals referred for genetic testing in 12 accredited diagnostic ...
Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel   +16 more
doaj   +1 more source

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. [PDF]

PLoS ONE, 2015
Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy.
Barshagul T Baikara, Elena V Zholdybayeva, Saule E Rakhimova, Nazym B Nigmatullina, Kuvat T Momynaliev, Yerlan M Ramanculov   +5 more
doaj   +1 more source

Alport syndrome: a genetically confirmed x-linked case with early family screening. [PDF]

Batna Journal of Medical Sciences
Introduction: Alport syndrome (AS) is a hereditary nephropathy caused by pathogenic variants in the type IV collagen genes (COL4A3, COL4A4, or COL4A5), leading to structural defects in the glomerular basement membrane, cochlea, and eye.
Sonia Yasmine KIRANE, Lahlou HADDAD, Wassila MESSADI, Amina SARI, Ourida GACEM   +4 more
doaj   +1 more source

Generation of two induced pluripotent stem cell lines from patients with X-linked Alport syndrome

Stem Cell Research, 2021
Mutations in COL4A5 on chromosome Xq22 cause X-linked Alport syndrome (XLAS). In this study, we generated two human induced pluripotent stem cell (iPSC) lines from two male patients carrying mutation c.796C > T (p.R266X) in COL4A5 gene.
Yanyan Ma, Zhendong Wang, Min Gao, Xiaolin Liu, Wenjie Sun, Yaoqin Gong, Gongping Sun, Guangyi Liu   +7 more
doaj   +1 more source

Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age

Frontiers in Medicine, 2022
X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney disease (ESKD) and ...
Roman Günthner, Roman Günthner, Lea Knipping, Stefanie Jeruschke, Robin Satanoskij, Bettina Lorenz-Depiereux, Clara Hemmer, Matthias C. Braunisch, Matthias C. Braunisch, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Jasmina Ćomić, Jasmina Ćomić, Burkhard Tönshoff, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Karin Buiting, Nikola Gjorgjievski, Ana Momirovska, Ludwig Patzer, Martin Kirschstein, Oliver Gross, Adrian Lungu, Stefanie Weber, Lutz Renders, Uwe Heemann, Thomas Meitinger, Anja K. Büscher, Julia Hoefele   +29 more
doaj   +1 more source

Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin [PDF]

Kidney International, 1999
The COL4A3-COL4A4-COL4A5 network in the glomerular basement membrane is affected in the inherited renal disorder Alport's syndrome (AS). Approximately 85% of the AS patients are expected to carry a mutation in the X-chromosomal COL4A5 gene and 15% in the autosomal COL4A3 and COL4A4 genes.
van der Loop, F.T.L., Monnens, L.A.H., Schröder, C.H., Lemmink, H.H., Breuning, MH, Timmer, E.D.J., Smeets, H.J.M.   +6 more
openaire   +3 more sources

Negative Staining for COL4A5 Correlates With Worse Prognosis and More Severe Ultrastructural Alterations in Males With Alport Syndrome

Kidney International Reports, 2017
Alport syndrome (AS) is a genetic disorder characterized by progressive hematuric nephropathy with or without sensorineural hearing loss and ocular lesions. Previous studies on AS included mostly children.
Samar M. Said, Mary E. Fidler, Anthony M. Valeri, Brooke McCann, Wade Fiedler, Lynn D. Cornell, Mariam Priya Alexander, Ahmed M. Alkhunaizi, Anne Sullivan, Carl H. Cramer, Marie C. Hogan, Samih H. Nasr   +11 more
doaj   +1 more source