Results 81 to 90 of about 3,403 (162)

Severe clinical phenotype in Alport syndrome due to two COL4A4 exon skipping events [PDF]

Alport syndrome (AS) is a genetically heterogeneous disorder caused by mutations in COL4A3, COL4A4, or COL4A5, leading to progressive renal dysfunction. While genetic screening has advanced, many cases remain undiagnosed due to deep intronic splice site ...
Kojc, Nika, Matjašič, Alenka, Kert, Špela, Zupan, Andrej, Pleško, Jerica, Meglič, Anamarija, Petrin, Sara   +6 more
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Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome

Kidney Medicine, 2019
Alport syndrome is a hereditary glomerular nephritis associated with hearing loss and eye abnormalities and is classified as X-linked Alport syndrome, autosomal recessive Alport syndrome, and autosomal dominant Alport syndrome.
Taro Akihisa, Masayo Sato, Yoshie Wakayama, Sekiko Taneda, Shigeru Horita, Orie Hirose, Shiho Makabe, Hiroshi Kataoka, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kosaku Nitta, Toshio Mochizuki   +12 more
doaj   +1 more source

Familial Kidney Disease Phenocopying Hypertensive Nephropathy

Glomerular Diseases
Introduction: Familial kidney disease is common in Cyprus and previous studies have found that the majority of families have mutations in Alport syndrome genes COL4A3/4/5.
Fezile Ozdemir, D. Deren Oygar, Ahmet Behlul, Salahi Ataç, Simge Bardak, Meral Yükseliş, Gregory Papagregoriou, Apostolos Malatras, Daniel P. Gale, Guy H. Neild, Constantinos Deltas, Cemal Gurkan   +11 more
doaj   +1 more source

In Silico Functional Assessment of COL4A3, COL4A4, and COL4A5 SNPs in Alport Syndrome

Aim: Alport syndrome is a rare genetic disorder characterized by hematuria, proteinuria, progressive renal failure, and, in some cases, hearing and visual impairment.
Beyza Rümeysa Erginal Geç, Mesut Karahan, Tuğba Kaman   +2 more
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Synonymous and non-synonymous polymorphisms detected in COL4A3 and COL4A4 in this work.

, 2014
*Polymorphisms found by NGS.Synonymous and non-synonymous polymorphisms detected in COL4A3 and COL4A4 in this work.
Michael Zavros (675492), Polycarpos Polycarpou (675510), Akis Lazarou (675504), Andreas Soloukides (675507), Alexia Panagides (675495), Aristos Michael (675503), Louiza Papazachariou (389615), Avraam Elia (389620), Kyproula Demetriou (675497), Gregory Papagregoriou (333784), Konstantinos Voskarides (333789), Isavella Savva (675490), Panayiota Demosthenous (389614), Alkis Pierides (333795), Charalambos Patsias (675494), Michael Hadjigavriel (675499), Kyriakos Ioannou (675493), Costas Potamitis (675496), Ioanna Zouvani (675509), Panayiota Loukaidou (675501), Ioanna Goutziamani (675506), Myrtani Pieri (538401), Yiannis Athanasiou (333793), Lakis Yioukas (675508), Marios Prikis (675498), Maria Kkolou (675500), Constantinos Deltas (333799), Christoforos Stavrou (675491), Androulla Pastelli (675502), Maria Arsali (389616), Loukas Damianou (675505)   +30 more
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A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen α3α4α5(IV) trimers.

, 2014
A spontaneous mutation termed bilateral wasting kidneys (bwk) was identified in a colony of NONcNZO recombinant inbred mice. These mice exhibit a rapid increase of urinary albumin at an early age associated with glomerulosclerosis, interstitial nephritis,
Bronson, Roderick T, Miner, Jeffrey H, Korstanje, Ron, Caputo, Christina R, Cook, Susan A, Doty, Rosalinda A, Davisson, Muriel T   +6 more
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Age at end-stage renal failure and severity of mutations with COL4A5, COL4A3 and COL4A4 variants.

, 2016
Age at end-stage renal failure and severity of mutations with COL4A5, COL4A3 and COL4A4 variants.
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

Reclassification of Genetic Testing Results: A Case Report Demonstrating the Need for Structured Re-Evaluation of Genetic Findings

Canadian Journal of Kidney Health and Disease
Rationale: Alport Syndrome (AS) is a progressive genetic condition characterized by chronic kidney disease (CKD), hearing loss, and eye abnormalities. It is caused by mutations in the genes COL4A3, COL4A4 , and COL4A5 .
Clara Schott BMSc, Samantha Colaiacovo MSc, Cadence Baker MSc, Matthew A. Weir MD, MSc, Dervla M. Connaughton MD, PhD, MSc   +4 more
doaj   +1 more source

Supplementary Material for: Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes

, 2018
Thin basement membrane nephropathy (TBMN), autosomal dominant Alport syndrome (ADAS), and focal segmental glomerulosclerosis (FSGS) are kidney diseases that differ in clinical diagnosis, treatment, and prognosis. Nevertheless, they may result from the
Xia Z.-K. (4852288), Liu Z.-H. (4852291), Liu F.-X. (4852273), Li X.-J. (4852294), Cui Y.-X. (4852285), Lv X. (4274248), Xia X.-Y. (4852282), Gao E.-Z. (4852276), Wei X.-X. (4852279), Gao C.-L. (4852270), Li A. (4155403), Liu J.-H. (4154377), Asan (133835)   +12 more
core   +1 more source

Identification of genes associated with sperm storage capacity in hens at different times after insemination by RNA-seq and Ribo-seq

BMC Genomics
Background Sperm storage capacity (SSC) determines the duration of fertility in hens and is an important reproduction trait that cannot be ignored in production. Currently, the genetic mechanism of SSC is still unclear in hens.
Ruitang Chai, Cong Xiao, Zhuliang Yang, Wenya Du, Ke Lv, Jiayi Zhang, Xiurong Yang   +6 more
doaj   +1 more source