The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)
about
ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteinsAnoctamin/TMEM16 family members are Ca2+-activated Cl- channelsNew and notable ion-channels in the sarcoplasmic/endoplasmic reticulum: do they support the process of intracellular Ca(2+) release?Exposure of phosphatidylserine on the cell surfaceCalcium-dependent phospholipid scramblase activity of TMEM16 protein family membersANO2 is the cilial calcium-activated chloride channel that may mediate olfactory amplification.[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].Expression cloning of TMEM16A as a calcium-activated chloride channel subunit.Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.Chloride channels: often enigmatic, rarely predictable.Stem cells and bone diseases: new tools, new perspectiveThe TMEM16 protein family: a new class of chloride channels?Evolution and functional divergence of the anoctamin family of membrane proteinsAnoctamins.International Union of Basic and Clinical Pharmacology. LXXXV: calcium-activated chloride channels.Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaModulating Ca²⁺ signals: a common theme for TMEM16, Ist2, and TMC.Fibro-osseous lesions of the craniofacial skeleton: an update.Autosomal recessive limb-girdle muscular dystrophies in the Czech RepublicMultiple transcripts of anoctamin genes expressed in the mouse submandibular salivary gland.Development of the Olfactory Epithelium and Nasal Glands in TMEM16A-/- and TMEM16A+/+ Mice.Two helices in the third intracellular loop determine anoctamin 1 (TMEM16A) activation by calciumNext generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsGenetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy.Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patientsA Role of TMEM16E Carrying a Scrambling Domain in Sperm Motility.Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 geneA novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.Hereditary and familial syndromes of bone and blood. Genetic pathways, diagnostic pitfalls.Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?Anoctamin and transmembrane channel-like proteins are evolutionarily related.Anoctamin 1 mediates thermal pain as a heat sensor.Independent activation of distinct pores in dimeric TMEM16A channelsThree novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.Ca2+-activated Cl- channels at a glance.Role of ion transport in control of apoptotic cell death.Ca2+-activated Cl- channels.Functions of volume-sensitive and calcium-activated chloride channels.
P2860
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P2860
The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)
description
2004 nî lūn-bûn
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2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2004 թվականի ապրիլին հրատարակված գիտական հոդված
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年學術文章
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The novel gene encoding a puta ...... athodiaphyseal dysplasia (GDD)
@ast
The novel gene encoding a puta ...... athodiaphyseal dysplasia (GDD)
@en
The novel gene encoding a puta ...... athodiaphyseal dysplasia (GDD)
@nl
type
label
The novel gene encoding a puta ...... athodiaphyseal dysplasia (GDD)
@ast
The novel gene encoding a puta ...... athodiaphyseal dysplasia (GDD)
@en
The novel gene encoding a puta ...... athodiaphyseal dysplasia (GDD)
@nl
prefLabel
The novel gene encoding a puta ...... athodiaphyseal dysplasia (GDD)
@ast
The novel gene encoding a puta ...... athodiaphyseal dysplasia (GDD)
@en
The novel gene encoding a puta ...... athodiaphyseal dysplasia (GDD)
@nl
P2093
P2860
P3181
P356
P1476
The novel gene encoding a puta ...... athodiaphyseal dysplasia (GDD)
@en
P2093
Fumiko Saito-Ohara
Hiroshi Inoue
Johji Inazawa
Koichi Nakakuki
Maki Moritani
Masaru Nagayama
Mitsuo Itakura
Nobuyuki Kamata
Satoshi Tsutsumi
P2860
P304
P3181
P356
10.1086/421527
P407
P577
2004-04-29T00:00:00Z