Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B
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Sheldon-Hall syndromeMutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndromeBlood pressure loci identified with a gene-centric arrayExome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1Arthrogryposis: a review and updateTargeting the sarcomere to correct muscle functionTroponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: characterization of Tnnt3(tm2a(KOMP)Wtsi) miceMutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patientsEffects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibresDe novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.Mutations in ECEL1 cause distal arthrogryposis type 5DMyosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells.Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsThe embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscleAMC: amyoplasia and distal arthrogryposis.Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.Update on clubfoot: etiology and treatment.Thick and thin filament gene mutations in striated muscle diseases.The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposisSkeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.Overexpression of miRNA-9 Generates Muscle Hypercontraction Through Translational Repression of Troponin-T in Drosophila melanogaster Indirect Flight MusclesArthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report.Myofilament lattice structure in presence of a skeletal myopathy-related tropomyosin mutation.Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis.Dissection of Myogenic Differentiation Signatures in Chickens by RNA-Seq Analysis.Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.Biallelic SEMA3A defects cause a novel type of syndromic short stature.Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.
P2860
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P2860
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B
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2003 nî lūn-bûn
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2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած
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2003 թվականի հուլիսին հրատարակված գիտական հոդված
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2003年の論文
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@ast
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@en
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@en-gb
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@nl
type
label
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@ast
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@en
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@en-gb
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@nl
prefLabel
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@ast
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@en
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@en-gb
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@nl
P2093
P2860
P3181
P356
P1476
Mutations in TNNT3 cause multi ...... distal arthrogryposis type 2B
@en
P2093
Anna-Marie E Brassington
John C Carey
Lynn B Jorde
Michael Bamshad
Patrycja A Krakowiak
Sandy S Sung
P2860
P3181
P356
10.1086/376418
P407
P577
2003-07-01T00:00:00Z