Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
about
CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemiaWhole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeRegulation of dental enamel shape and hardnessRetinal dystrophies, genomic applications in diagnosis and prospects for therapyBasolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse modelExome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesIdentification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfectaMg2+-dependent interactions of ATP with the cystathionine-β-synthase (CBS) domains of a magnesium transporterStructural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2.Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 genePurification of cone outer segment for proteomic analysis on its membrane proteins in carp retina.A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementDiseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition.Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.Purification, crystallization and preliminary crystallographic analysis of the CBS-domain pair of cyclin M2 (CNNM2).Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4.Membrane topology and intracellular processing of cyclin M2 (CNNM2).Intra-familial phenotype variability in patients with Jalili syndromeCone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.Nucleotide binding triggers a conformational change of the CBS module of the magnesium transporter CNNM2 from a twisted towards a flat structure.Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients with Cone-Rod Dystrophy and Amelogenesis Imperfecta.DLX3-Dependent Regulation of Ion Transporters and Carbonic Anhydrases is Crucial for Enamel Mineralization.A new familial case of Jalili syndrome caused by a novel mutation in CNNM4.
P2860
Q24296446-50230A53-4F78-4585-8AF6-68B96F3C413EQ24301630-E956A727-BEEA-45DA-8D7C-94BA56CECD94Q24602975-5B1037FE-12A9-477E-BC61-EC698FEFBC4FQ26770321-BA57AA05-755D-43FF-9313-E46BE503339BQ27318632-C5D250F5-286D-4887-A3D9-DF1C249658F9Q28533822-B2FE6089-A5BE-4667-BF0E-18E9AAE016F3Q28586451-1A14D732-6D1D-4136-A00E-62B031317D01Q28594923-FCDAAEFB-CF2B-4595-B949-A13747E26279Q30835607-AC428FCB-BA7B-4DDE-967F-E8D036ED30CFQ34047277-1C28E6D2-E0D5-41FA-B148-EEC237724745Q34294655-FFC21DA3-094F-46E5-9003-0A17B66E2ACEQ34458826-D1951E6F-250A-4EE3-93C9-5C26C815EFB4Q35032611-4963308A-03A4-4686-B868-ABFBE3793966Q36307475-79FFCB4F-2DA4-468E-94A6-D76852915F02Q36577378-7640EBD5-5C06-4B5E-9029-5BE683AC510FQ38134658-02917D49-A697-43A1-BCD0-021874D8CC6DQ38398324-095532C9-A668-4FE5-88B5-31F287B126DFQ39232242-00829853-07A0-43E0-A968-126DAA8B07E5Q41157213-9CD93000-2269-4A15-BD98-40B3DDFF9A05Q41777733-9A80DED6-6FCB-4701-A04D-2405B2CC6352Q42102883-48ECE39A-52F6-48CB-A20B-DA1B209B21E0Q42558565-53C95BCC-4A9D-4A27-A29E-8A06233D36F3Q42671892-52DD92B0-82C2-41C7-833C-871F21BBFB0FQ42696184-94763F37-52B8-4ED3-9D34-D97F49FF94D1Q44643323-B73143EC-286B-4D8B-8A43-8600FD936320Q45944877-66841962-8B1B-4AE0-8C15-3CCF242B6630Q47284831-5AB10E83-087D-4C8F-8187-450E027B0105Q47561548-F5EEB08F-87C1-42A1-A875-9D252EDC1C49Q50111810-6B322265-597D-4773-988C-A78CC7FAC785Q50483182-2E454CEC-E95C-4644-8375-8EDE7D2F1E9CQ53926754-B719540E-0E37-4C4C-8C57-6D499C14A643
P2860
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
description
2009 nî lūn-bûn
@nan
2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
@ast
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
@en
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
@nl
type
label
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
@ast
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
@en
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
@nl
prefLabel
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
@ast
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
@en
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
@nl
P2093
P2860
P1476
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
@en
P2093
Aude Ambresin
Bernard Thilo
Bozena Polok
Christian Hamel
Daniel F Schorderet
Eliane Chouery
Francis L Munier
Francis Nan
Isabelle Meunier
Pascal Escher
P2860
P304
P356
10.1016/J.AJHG.2009.01.006
P407
P577
2009-02-01T00:00:00Z