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Whole exome sequencing identified FAM149A as a plausible causative gene for congenital hereditary endothelial dystrophy, affecting Nrf2-Antioxidant signaling upon oxidative stress.
Zhang J, Dai Y, Wu D, Li Y, Xu J. Zhang J, et al. Free Radic Biol Med. 2021 Sep;173:117-124. doi: 10.1016/j.freeradbiomed.2021.07.029. Epub 2021 Jul 23. Free Radic Biol Med. 2021. PMID: 34303830
RESULTS: We identified a homozygous mutation (NM_015398.3: c.991A > G; p.R331G) in the FAM149A gene that related to the phenotype of CHED. FAM149A was found to be highly expressed in corneal endothelium, and up-regulated upon oxidative stress. ...Consistently, th …
RESULTS: We identified a homozygous mutation (NM_015398.3: c.991A > G; p.R331G) in the FAM149A gene that related to the phenotype …
Genetic Foundation of Male Spur Length and Its Correlation with Female Egg Production in Chickens.
Chen A, Zhao X, Zhao X, Wang G, Zhang X, Ren X, Zhang Y, Cheng X, Yu X, Wang H, Guo M, Jiang X, Mei X, Wei G, Wang X, Jiang R, Guo X, Ning Z, Qu L. Chen A, et al. Animals (Basel). 2024 Jun 13;14(12):1780. doi: 10.3390/ani14121780. Animals (Basel). 2024. PMID: 38929399 Free PMC article.
After genome-wide association and genome divergency analysis by F(ST), allele frequency differences (AFDs), and XPEHH methods, we identified 7 overlapping genes (CENPE, FAT1, FAM149A, MANBA, NFKB1, SORBS2, UBE2D3) and 14 peak genes (SAMD12, TSPAN5, ENSGALG00000050071, ENSG …
After genome-wide association and genome divergency analysis by F(ST), allele frequency differences (AFDs), and XPEHH methods, we identified …
Genomic selection pressure discovery using site-frequency spectrum and reduced local variability statistics in Pakistani Dera-Din-Panah goat.
Saif R, Mahmood T, Zia S, Henkel J, Ejaz A. Saif R, et al. Trop Anim Health Prod. 2023 Sep 26;55(5):331. doi: 10.1007/s11250-023-03758-2. Trop Anim Health Prod. 2023. PMID: 37750990
The highest genomic selection signals were observed on Chr. 4, 6, 10, 12, 15, 16, 18, 20, and 27 and harbor ADAMTS6, CWC27, RELN, MYCBP2, FGF14, STIM1, CFAP74, GNB1, CALML6, TMEM52, FAM149A, NADK, MMP23B, OPN3, FH, MFHAS1, KLKB1, RRM1, KMO, SPEF2, F11, KIT, KMO, ERI1, ATP8 …
The highest genomic selection signals were observed on Chr. 4, 6, 10, 12, 15, 16, 18, 20, and 27 and harbor ADAMTS6, CWC27, RELN, MYCBP2, FG …
Prenatal diagnosis of a 4.5-Mb deletion at chromosome 4q35.1q35.2: Case report and literature review.
Xiao G, Qiu X, Zhou Y, Tan G, Shen Y. Xiao G, et al. Mol Cytogenet. 2021 Nov 18;14(1):53. doi: 10.1186/s13039-021-00573-y. Mol Cytogenet. 2021. PMID: 34794455 Free PMC article.
The deletion region of the fetus was arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460) 1; the loss size of the CNV was approximately 4.5 Mb and involved 14 protein-coding genes, namely, CYP4V2, F11, FAM149A, FAT1, FRG1, FRG2, KLKB1, MTNR1A, PDLIM3, SORBS2, TLR3, TRIML1, T …
The deletion region of the fetus was arr[GRCh37] 4q35.1q35.2(186,431,008_190,957,460) 1; the loss size of the CNV was approximately 4.5 Mb …
A Preliminary Genome-Wide Association Study of Acute Mountain Sickness Susceptibility in a Group of Nepalese Pilgrims Ascending to 4380 m.
MacInnis MJ, Widmer N, Timulsina U, Subedi A, Siwakoti A, Pandit BP, Freeman MG, Carter EA, Manokhina I, Thapa GB, Koehle MS. MacInnis MJ, et al. High Alt Med Biol. 2015 Dec;16(4):290-7. doi: 10.1089/ham.2015.0065. Epub 2015 Nov 24. High Alt Med Biol. 2015. PMID: 26600424
In total, 270,389 single nucleotide polymorphisms (SNPs) passed quality control, and 4 SNPs (one intronic, three nonsynonymous) in the FAM149A gene were associated with AMS severity after correcting for multiple hypothesis testing (p = 1.8E-7); however, in the validation c …
In total, 270,389 single nucleotide polymorphisms (SNPs) passed quality control, and 4 SNPs (one intronic, three nonsynonymous) in the FA …