Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. - Wikidata - wikimedia - TriplyDB

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

http://www.wikidata.org/entity/Q34155302

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Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research Modeling congenital disease and inborn errors of development in Drosophila melanogaster Golgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport Vesicles TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy Tubulin-binding cofactor B is a direct interaction partner of the dynactin subunit p150(Glued)A missense mutation in Tbce causes progressive motor neuronopathy in mice Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.Genome-wide association studies of growth traits in three dairy cattle breeds using whole-genome sequence data.Axonal involvement in the Wlds neuroprotective effect: analysis of pure motoneurons in a mouse model protected from motor neuron disease at a pre-symptomatic age.The background puzzle: how identical mutations in the same gene lead to different disease symptoms.Genetic causes of hypomagnesemia, a clinical overview Indications of linkage and association of Gilles de la Tourette syndrome in two independent family samples: 17q25 is a putative susceptibility region.Molecular and comparative genetics of mental retardation.Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD.Dealing with misfolded proteins: examining the neuroprotective role of molecular chaperones in neurodegeneration.Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.Congenital hypoparathyroidism presenting as recurrent seizures in an adult.Genetic disorders involving molecular-chaperone genes: a perspective.Tubulin cofactors and Arl2 are cage-like chaperones that regulate the soluble αβ-tubulin pool for microtubule dynamics Strategies for the prevention of hereditary diseases in a highly consanguineous population.Kenny-Caffey syndrome type 1 in an Egyptian girl Local axonal function of STAT3 rescues axon degeneration in the pmn model of motoneuron disease.A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.FAM111A mutations result in hypoparathyroidism and impaired skeletal development A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.Sanjad-Sakati Syndrome in Sudanese children Epidemiology and Health-Related Quality of Life in Hypoparathyroidism in Norway Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathy Fahr's syndrome: literature review of current evidence.Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene.Revisiting the tubulin cofactors and Arl2 in the regulation of soluble αβ-tubulin pools and their effect on microtubule dynamics.The Israeli National Genetic database: a 10-year experience.Faithful chaperones.One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.Tubulin-specific chaperones: components of a molecular machine that assembles the α/β heterodimer.Autoinhibition of TBCB regulates EB1-mediated microtubule dynamics.

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Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

http://www.wikidata.org/entity/Q34155302

description

2002 nî lūn-bûn

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2002 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2002 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年论文

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name

Mutation of TBCE causes hypopa ...... cessive Kenny-Caffey syndrome.

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Mutation of TBCE causes hypopa ...... cessive Kenny-Caffey syndrome.

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Mutation of TBCE causes hypopa ...... cessive Kenny-Caffey syndrome.

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type

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Mutation of TBCE causes hypopa ...... cessive Kenny-Caffey syndrome.

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Mutation of TBCE causes hypopa ...... cessive Kenny-Caffey syndrome.

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Mutation of TBCE causes hypopa ...... cessive Kenny-Caffey syndrome.

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Mutation of TBCE causes hypopa ...... cessive Kenny-Caffey syndrome.

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Mutation of TBCE causes hypopa ...... cessive Kenny-Caffey syndrome.

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Mutation of TBCE causes hypopa ...... cessive Kenny-Caffey syndrome.

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Nature Genetics

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Mutation of TBCE causes hypopa ...... cessive Kenny-Caffey syndrome.

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Abdul Karim Al Humaidan

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Abdulrahman Al Swaid

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Aida I Al Aqeel

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Alexandra Zecic

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Fatma Al Zanhrani

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George A Diaz

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HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium

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Johara Al Othman

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K Tahseen S Khan

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Marios Kambouris

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P2860

Pathway leading to correctly folded beta-tubulin

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

Positional cloning of the gene for X-linked retinitis pigmentosa 2

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43

Chaperonin-mediated folding of actin and tubulin

Tubulin subunits exist in an activated conformational state generated and maintained by protein cofactors

Prediction of complete gene structures in human genomic DNA

Tandem repeats finder: a program to analyze DNA sequences

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

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448-452

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10.1038/NG1012

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3

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32

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Rafael Gorodischer

Eli Hershkovitz

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2002-10-21T00:00:00Z

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12389028

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