Results 11 to 20 of about 3,403 (162)

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome. [PDF]

PLoS ONE, 2017
Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen.
Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li   +15 more
doaj   +2 more sources

Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome [PDF]

Frontiers in Medicine, 2022
Introduction:Alport syndrome (AS) is an inherited disorder characterized by hematuria, proteinuria, and kidney function impairment, and frequently associated with extrarenal manifestations.
Agne Cerkauskaite, Judy Savige, Karolina Janonyte, Ieva Jeremiciute, Marius Miglinas, Edita Kazenaite, Arvydas Laurinavicius, Rasa Strupaite-Sileikiene, Vija Vainutiene, Birute Burnyte, Augustina Jankauskiene, Arndt Rolfs, Peter Bauer, Sabine Schröder, Rimante Cerkauskiene   +14 more
doaj   +3 more sources

Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina. [PDF]

PLoS ONE, 2012
Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion predisposing the patient to retinal tears and detachment. The etiology of this degeneration is still uncertain, but it is likely that both genetic and
Akira Meguro, Hidenao Ideta, Masao Ota, Norihiko Ito, Ryuichi Ideta, Junichi Yonemoto, Masaki Takeuchi, Riyo Uemoto, Tadayuki Nishide, Yasuhito Iijima, Tatsukata Kawagoe, Eiichi Okada, Tomoko Shiota, Yuta Hagihara, Akira Oka, Hidetoshi Inoko, Nobuhisa Mizuki   +16 more
doaj   +2 more sources

Case report: a novel heterozygous COL4A4 mutation causing autosomal dominant Alport syndrome

Egyptian Journal of Medical Human Genetics
Background Autosomal Dominant Alport Syndrome (ADAS) is a rare genetic disorder caused by mutations in the COL4A3, COL4A4, or COL4A5 genes. ADAS often presents with proteinuria and hematuria, and while progressive renal insufficiency can develop, it ...
Shuqin Liu, Xisheng Xie
doaj   +2 more sources

The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report [PDF]

Frontiers in Pediatrics
BackgroundAlport syndrome is an inherited glomerular disease that leads to progressive kidney failure, hearing loss, and eye problems. Diagnosis mostly relies on tests of tissue pathology and genetic analysis.
Dayan Wang, Dayan Wang, Xiaobing Li, Xiaobing Li, Kaichao Cheng, Kaichao Cheng, Lanjin Zheng, Lanjin Zheng, Pengfei Yu, Pengfei Yu, Panjian Lai, Panjian Lai   +11 more
doaj   +2 more sources

Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene [PDF]

, 2004
Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene.BackgroundAlport syndrome is a clinically and genetically heterogeneous nephropathy. The majority of cases are transmitted as an X-linked semidominant condition
Vogiatzi, Paraskevi, Miglietti, Nunzia, Bresin, Elena, Seri, Marco, Caselli, Rossella, Longo, Ilaria, Abaterusso, Cataldo, Mari, Francesca, Scala, Elisa, Renieri, Alessandra, Pescucci, Chiara, Gusmano, Rosanna   +11 more
core   +4 more sources

COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome [PDF]

, 2002
COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome.BackgroundMutations of the type IV collagen COL4A5 gene cause X-linked Alport syndrome (ATS).
Brusco, Alfredo, Longo, Ilaria, Deplano, Carla, Bosio, Maurizio, Massella, Laura, Conti, Maura, Giachino, Daniela, De Marchi, Mario, Heidet, Laurence, Lavoratti, Giancarlo, Roccatello, Dario, Porcedda, Paola, Frascá, Giovanni, Mazzucco, Gianna, Muda, Andrea Onetti, Meloni, Ilaria, Arrondel, Christelle, Mari, Francesca, Renieri, Alessandra, Fasciolo, Federica   +19 more
core   +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

Association of TIMP-1 and COL4A4 Gene Polymorphisms with Keratoconus in an Iranian Population

Journal of Ophthalmic & Vision Research, 2020
Purpose: Keratoconus (KC) is a bilateral and noninflammatory disease, characterized by progressive thinning and anterior protrusion of the cornea and may result in severe visual impairment due to irregular astigmatism. Matrix metalloproteinases (MMP) are
Davood Yari, Zohreh Ehsanbakhsh, Mohammad-Hosein Validad, Farzaneh Hasanian Langroudi   +3 more
doaj   +1 more source

Establishment of the induced pluripotent stem cell line (NCKDi005-A) from a male patient with Alport syndrome carrying a homozygous frameshift mutation in the COL4A4 gene

Stem Cell Research, 2022
Alport syndrome is an inherited chronic kidney disease with genetic heterogeneity. There are three modes of inheritance: X-linked dominant inheritance, autosomal recessive inheritance, and autosomal dominant inheritance.
Gang Wang, Erzhi Gao, Hangdi Wu, Li Zhang, Yuqing Zhu, Jin Zhang, Zhihong Liu   +6 more
doaj   +1 more source