Gene Symbol: LRMDA
Description: leucine rich melanocyte differentiation associated
Alias: C10orf11, CDA017, leucine-rich melanocyte differentiation-associated protein, leucine-rich repeat-containing protein C10orf11
Lei T, Wang H, Li F, Cui Y, Fu F, Li R, et al
. De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment. Cleft Palate Craniofac J. 2017;54:343-350 pubmed publisher
..3. The deletion harbors 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11. This is the first patient with a deletion of the smallest size in 10q22.2q22...
Yao T, Du G, Han L, Sun Y, Hu D, Yang J, et al
. Genome-wide association study of lung function phenotypes in a founder population. J Allergy Clin Immunol. 2014;133:248-55.e1-10 pubmed publisher
..Lung function is a long-term predictor of mortality and morbidity...
Tzschach A, Bisgaard A, Kirchhoff M, Graul Neumann L, Neitzel H, Page S, et al
. Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. Eur J Hum Genet. 2010;18:291-5 pubmed publisher
..The breakpoint in 10q22 was found to disrupt C10orf11, a brain-expressed gene in the common deleted interval of patients 1-3...
Grønskov K, Dooley C, Østergaard E, Kelsh R, Hansen L, Levesque M, et al
. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet. 2013;92:415-21 pubmed publisher
..2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern...
Marti A, Lasseaux E, Ezzedine K, Leaute Labreze C, Boralevi F, Paya C, et al
. Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. Pigment Cell Melanoma Res. 2017;: pubmed publisher
..9%), OCA2 (19/64, 29.7%), TYRP1 (1/64, 1.6%), SLC45A2 (12/64, 18.7%), C10orf11 (1/64, 1.6%), HPS1 (3/64, 4.7%), HPS5 (1/64, 1.5%), HPS6 (1/64, 1.6%) and GPR143 (2/64, 3.1%)...
Treviño L, Shimasaki N, Yang W, Panetta J, Cheng C, Pei D, et al
. Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. J Clin Oncol. 2009;27:5972-8 pubmed publisher
..4; P = .03 to .004). A genome-wide interrogation identified inherited variations in a plausible, yet heretofore low-priority candidate gene, SLCO1B1, as important determinants of methotrexate's pharmacokinetics and clinical effects. ..
Kiyotani K, Mushiroda T, Tsunoda T, Morizono T, Hosono N, Kubo M, et al
. A genome-wide association study identifies locus at 10q22 associated with clinical outcomes of adjuvant tamoxifen therapy for breast cancer patients in Japanese. Hum Mol Genet. 2012;21:1665-72 pubmed publisher
..87 × 10(-9)-9.41 × 10(-8)). Among them, rs10509373 in C10orf11 gene on 10q22 was significantly associated with recurrence-free survival in the replication study (log-rank P= 2...