COL4A4 - collagen type IV alpha 4 chain-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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1286 COL4A4

基因描述

Type	Description
Definition	collagen type IV alpha 4 chain

研究结论

Date	Results	Publications
2020-05-16 11:19:00	Even with an expanded gene panel, we find that COL4A disorders are the leading monogenic cause in adults diagnosed with FSGS.	30647093
2020-03-21 11:25:00	Our results did prove a statistical association of both rs2228557 and rs12407427 genotypes (TT and CT + CC) and allele (T) with KTCN susceptibility in Iranian population.	31077021
2019-09-28 12:04:00	mutation in COL4A4 caused autosomal recessive Alport syndrome in this pedigree	31515789
2019-03-16 12:05:00	COL4A3/A4/A5 mutations were found in aconsiderable fraction of patients with hereditary nephritis that is difficult to diagnose clinicopathologically.	28704582
2018-06-16 11:49:00	Results showed that COL4A4 c.1471C>T and COL4A3 c.3418 + 1G>T variants in cis are pathogenic and co-segregate with the benign familial hematuria. This result suggests that COL4A3 and COL4A4 digenic mutations in cis mimicking an autosomal dominant inheritance should be considered as a novel inheritance pattern of benign familial hematuria.	29742505

名称对应

Type	IDs
Synonymous	ATS2, BFH, CA44
Gene	UniProtKB-ID: CO4A4_HUMAN UniprotKB: P53420 UniParc: UPI000013D987 EMBL: Y17418, Y17423, Y17432, Y17439, Y17407, Y17429, Y17414, Y17442, Y17431, Y17406, Y17437, Y17404, Y17417, Y17420, Y17443, Y17415, Y17399, Y17416, Y17425, Y17413, Y17436, AC073149, Y17438, Y17440, Y17441, Y17422, X81053, Y17405, Y17408, Y17430, Y17428, Y17401, Y17409, Y17398, Y17412, AB008496, D17391, Y17427, Y17411, AC079235, Y17419, Y17424, Y17403, Y17426, Y17435, Y17421, Y17397, Y17434, Y17410, Y17402, Y17400, Y17433 Ensembl: ENSG00000081052 KO: hsa:1286
Nucleutide sequences	EMBL-CDS: AAY24061.1, CAA56943.1, CAA76763.1, BAA04214.1, AAY14670.1, BAA25065.1 Ensembl_TRS: ENST00000396625
Protein sequencees	Ensembl_PRO: ENSP00000379866 RefSeq: XP_016858789.1, XP_016858785.1, XP_011508861.1, XP_006712309.1, XP_011508868.1, XP_011508859.1, XP_016858787.1, XP_005246338.1, XP_011508869.1, XP_011508864.1, XP_011508872.1, XP_011508867.1, XP_011508862.1, NP_000083.3, XP_011508870.1, XP_016858788.1, XP_011508871.1, XP_005246339.1, XP_011508860.1, XP_016858786.1, XP_011508874.1, XP_011508863.1
Others	UniRef100: UniRef100_P53420 UniRef90: UniRef90_P53420 UniRef50: UniRef50_P53420 UniGene: Hs.591645 CCDS: CCDS42828.1

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Pubmed编号	文献信息	发表日期	相关基因
32203420	Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. Nat. Cell Biol. Paul M MÃ¼ller , Juliane Rademacher , Richard D Bagshaw , Celina Wortmann , Carolin Barth , Jakobus van Unen , Keziban M Alp , Girolamo Giudice , Rebecca L Eccles , Louise E Heinrich , Patricia Pascual-Vargas , Marta Sanchez-Castro , Lennart Brandenburg , Geraldine Mbamalu , Monika Tucholska , Lisa Spatt , Maciej T Czajkowski , Robert-William Welke , Sunqu Zhang , Vivian Nguyen , Trendelina Rrustemi , Philipp Trnka , Kiara Freitag , Brett Larsen , Oliver Popp , Philipp Mertins , Anne-Claude Gingras , Frederick P Roth , Karen Colwill , Chris Bakal , Olivier Pertz , Tony Pawson , Evangelia Petsalaki , Oliver Rocks	2020-04-01	-
31077021	Association of KIF26B and COL4A4 gene polymorphisms with the risk of keratoconus in a sample of Iranian population. Int Ophthalmol Saman Sargazi , Mahdiyeh Moudi , Milad Heidari Nia , Ramin Saravani , Hamid Malek Raisi	2019-11-01	-
31515789	[Clinical and genetic diagnosis of a pedigree affected with autosomal recessive Alport syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi Lili Ge , Chongfen Chen , Lei Liu , Yinsen Song	2019-09-10	-
30647093	Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS. Clin J Am Soc Nephrol Tony Yao , Khalil Udwan , Rohan John , Akanchaya Rana , Amirreza Haghighi , Lizhen Xu , Saidah Hack , Heather N Reich , Michelle Adrienne Hladunewich , Daniel C Cattran , Andrew D Paterson , York Pei , Moumita Barua	2019-02-07	-
28704582	Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically. Nephrology (Carlton) Aya Imafuku , Kandai Nozu , Naoki Sawa , Eiko Hasegawa , Rikako Hiramatsu , Masahiro Kawada , Junichi Hoshino , Kiho Tanaka , Yasuo Ishii , Kenmei Takaichi , Takeshi Fujii , Kenichi Ohashi , Kazumoto Iijima , Yoshifumi Ubara	2018-10-01	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
29669314	Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes. Cytogenet. Genome Res. Ang Li , Er-Zhi Gao , Ying-Xia Cui , Jian-Hong Liu , Xing Lv , Xiu-Xiu Wei , Xin-Yi Xia , Chun-Lin Gao , Feng-Xia Liu , Zheng-Kun Xia , Asan , Zhi-Hong Liu , Xiao-Jun Li	2018-01-01	-
29742505	The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family. Cytogenet. Genome Res. Ang Li , Ying-Xia Cui , Xing Lv , Jian-Hong Liu , Er-Zhi Gao , Xiu-Xiu Wei , Xin-Yi Xia , Chun-Lin Gao , Feng-Xia Liu , Zheng-Kun Xia , Asan , Zhi-Hong Liu , Xiao-Jun Li	2018-01-01	-
28632965	Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis. Clin. Genet. L Papazachariou , G Papagregoriou , D Hadjipanagi , P Demosthenous , K Voskarides , C Koutsofti , K Stylianou , P Ioannou , D Xydakis , I Tzanakis , A Papadaki , N Kallivretakis , N Nikolakakis , G Perysinaki , D P Gale , A Diamantopoulos , P Goudas , D Goumenos , A Soloukides , I Boletis , C Melexopoulou , E Georgaki , E Frysira , F Komianou , D Grekas , C Paliouras , P Alivanis , G Vergoulas , A Pierides , E Daphnis , C Deltas	2017-11-01	-
27859054	Alport syndrome: impact of digenic inheritance in patients management. Clin. Genet. C Fallerini , M Baldassarri , E Trevisson , V Morbidoni , A La Manna , R Lazzarin , A Pasini , G Barbano , A R Pinciaroli , G Garosi , E Frullanti , A M Pinto , M A Mencarelli , F Mari , A Renieri , F Ariani	2017-07-01	-

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