about
BMS1 is mutated in aplasia cutis congenitaSuccesses and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissectionsGenes regulated by potassium channel tetramerization domain containing 15 (Kctd15) in the developing neural crestThe BTB domains of the potassium channel tetramerization domain proteins prevalently assume pentameric statesGenome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2.KCTD1 suppresses canonical Wnt signaling pathway by enhancing β-catenin degradation.A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.The KCTD family of proteins: structure, function, disease relevance.MicroRNA-155-3p Mediates TNF-α-Inhibited Cementoblast Differentiation.KCTD5 is endowed with large, functionally relevant, interdomain motions.Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 I27N mutant mice.
P2860
Q21092409-ED0251E6-1CD8-4A7D-9417-ECF60F8DED58Q26864938-9F7EF97E-858F-42B2-8050-590E31C80ECFQ28312135-A60218D7-9FDA-48D3-B6A1-5493A9C65008Q28771738-F3D65064-D5E1-417D-9CC4-0318EAD4A47BQ33830886-7998B814-4293-4082-A850-9D2ED0C11AECQ35149000-0F0D72A4-4D18-4162-97DF-B3B10766A75AQ35675652-FC699B84-0CD0-450B-BB17-ED4F196E2ADCQ37438780-4C42BD54-8897-45B8-97E9-5E7ABB63AF30Q38686254-0647F7A7-9097-4195-957A-E53B758EF564Q40577385-AA017C01-D7BE-4125-A8BA-82224B28F3BFQ41438555-AF2B6631-12D7-48D2-92DA-ED4C2EFBC1C7
P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մարտին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
@ast
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
@en
type
label
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
@ast
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
@en
prefLabel
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
@ast
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
@en
P2093
P2860
P50
P1476
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
@en
P2093
Ana Beatriz A Perez
Anita E Beck
Anne K Lampe
Brian I Labow
Deborah A Nickerson
Ernst Reichenberger
Felecia Cerrato
Ghislaine Plessis
Holly K Tabor
Jose A R Fortes
P2860
P304
P356
10.1016/J.AJHG.2013.03.002
P407
P50
P577
2013-03-28T00:00:00Z