| A Genetic Variant of FAM46A is Associated With the Development of Adolescent Idiopathic Scoliosis in the Chinese Population. | A Genetic Variant of FAM46A is Associated With the Development of Adolescent Idiopathic Scoliosis in the Chinese Population.
Min K, Li Y, Wu Z, Dai Z, Feng Z, Qian Z, Sun X, Qiu Y, Xu L, Zhu Z., Free PMC Article | 08/17/2023 |
| Tent5a modulates muscle fiber formation in adolescent idiopathic scoliosis via maintenance of myogenin expression. | Tent5a modulates muscle fiber formation in adolescent idiopathic scoliosis via maintenance of myogenin expression.
Luo M, Yang H, Wu D, You X, Huang S, Song Y., Free PMC Article | 03/12/2022 |
| FAM46A expression is elevated in glioblastoma and predicts poor prognosis of patients. | FAM46A expression is elevated in glioblastoma and predicts poor prognosis of patients.
Wang Y, Cai R, Wang P, Huang C, Zhang C, Liu Z. | 07/3/2021 |
| We conclude that FAM46A mutations are responsible for a severe form of osteogenesis imperfecta (OI) with congenital bowing of the lower limbs and suggest screening this gene in unexplained OI forms. | FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V. | 09/21/2019 |
| By functional analysis based on a set of 1129 proteins from 494 obese subjects study identified and validated FAM46A as a trans regulator for leptin. | Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator.
Carayol J, Chabert C, Di Cara A, Armenise C, Lefebvre G, Langin D, Viguerie N, Metairon S, Saris WHM, Astrup A, Descombes P, Valsesia A, Hager J., Free PMC Article | 10/6/2018 |
| This exploratory genome-wide association studies confirmed APOE and identified the novel loci: rs72907046 near FAM46A (P = 1 x 10(-9) OR = 3.2 [2.1-4.9]). | Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.
Schott JM, Crutch SJ, Carrasquillo MM, Uphill J, Shakespeare TJ, Ryan NS, Yong KX, Lehmann M, Ertekin-Taner N, Graff-Radford NR, Boeve BF, Murray ME, Khan QU, Petersen RC, Dickson DW, Knopman DS, Rabinovici GD, Miller BL, González AS, Gil-Néciga E, Snowden JS, Harris J, Pickering-Brown SM, Louwersheimer E, van der Flier WM, Scheltens P, Pijnenburg YA, Galasko D, Sarazin M, Dubois B, Magnin E, Galimberti D, Scarpini E, Cappa SF, Hodges JR, Halliday GM, Bartley L, Carrillo MC, Bras JT, Hardy J, Rossor MN, Collinge J, Fox NC, Mead S., Free PMC Article | 10/7/2017 |
| VNTR in the coding region of the FAM46A gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP are associated with susceptibility to tuberculosis | Association of variable number of tandem repeats in the coding region of the FAM46A gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with susceptibility to tuberculosis.
Etokebe GE, Bulat-Kardum L, Munthe LA, Balen S, Dembic Z., Free PMC Article | 01/30/2016 |
| Genotype frequencies of cd (four and five VNTR repeats) and cc (four VNTR repeats homozygote) of the FAM46A gene were significantly decreased in the patients compared to the healthy controls in the Croatian and Norwegian subjects | Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell lung cancer (NSCLC) in Croatian and Norwegian populations.
Etokebe GE, Zienolddiny S, Kupanovac Z, Enersen M, Balen S, Flego V, Bulat-Kardum L, Radojčić-Badovinac A, Skaug V, Bakke P, Haugen A, Dembic Z., Free PMC Article | 01/16/2016 |
| Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6. | Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6.
Etokebe GE, Jotanovic Z, Mihelic R, Mulac-Jericevic B, Nikolic T, Balen S, Sestan B, Dembic Z. | 02/21/2015 |
| Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterization of novel VNTRs is reported. | Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.
Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G. | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | [VNTR polymorphism of C6orf37 in Chinese population].
Cui J, Wang W, Wang M, Lin J, Ma Y, Ruan WJ, Xu J, Lai MD. | 03/13/2008 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesA large-scale candidate gene association study of age at menarche and age at natural menopause.
He C, Kraft P, Chasman DI, Buring JE, Chen C, Hankinson SE, Paré G, Chanock S, Ridker PM, Hunter DJ. Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population.
Cui J, Wang W, Lai MD, Xu EP, Lv BJ, Lin J, Ruan WJ, Ma Y, Yao C, Cui J, Wang W, Lai MD, Xu EP, Lv BJ, Lin J, Ruan WJ, Ma Y, Yao C. | 03/13/2008 |
| A novel VNTR polymorphism in C6orf37 exists in Chinese population and is not associated with colorectal cancer risk | Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population.
Cui J, Wang W, Lai MD, Xu EP, Lv BJ, Lin J, Ruan WJ, Ma Y, Yao C, Cui J, Wang W, Lai MD, Xu EP, Lv BJ, Lin J, Ruan WJ, Ma Y, Yao C. | 01/21/2010 |
| a candidate of human retinal disease on chromosome 6 | Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14.
Lagali PS, Kakuk LE, Griesinger IB, Wong PW, Ayyagari R. | 01/21/2010 |