Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. - Wikidata - thesis-toulmin - TriplyDB

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.

http://www.wikidata.org/entity/Q33905928

about

Ehlers-Danlos syndrome type IV Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition Tenascin-X: beyond the architectural function Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia Asthma and airways collapse in two heritable disorders of connective tissue Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.Ehlers-danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications.Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.The human gene connectome as a map of short cuts for morbid allele discovery.TNXB mutations can cause vesicoureteral reflux.Tenascin-X, collagen, and Ehlers-Danlos syndrome: tenascin-X gene defects can protect against adverse cardiovascular events Back to basics--how the evolution of the extracellular matrix underpinned vertebrate evolution.Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome.Vesicoureteral reflux and the extracellular matrix connection.Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.The Ehlers-Danlos syndrome, a disorder with many faces.Infantile hypertrophic pyloric stenosis--genetics and syndromes.Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests.Joint hypermobility and headache: understanding the glue that binds the two together--part 1.Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised.The Ehlers-Danlos syndromes, rare types.Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.Fine-tuned characterization of RCCX copy number variants and their relationship with extended MHC haplotypes.Evaluation of kinesiophobia and its correlations with pain and fatigue in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type Suppression of hepatic dysfunction in tenascin‑X‑deficient mice fed a high‑fat diet.Joint hypermobility syndrome and dysautonomia: expanding spectrum of disease presentation and manifestation.Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.The role of TNXB single-nucleotide polymorphisms in recurrent shoulder dislocation.Anetodermic pilomatricoma in a patient with hypermobility syndrome.A novel TaqI polymorphism in the coding region of the ovine TNXB gene in the MHC class III region: morphostructural and physiological influences.Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome.Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

P2860

Q21202967-E072D8FD-780F-4384-9E02-3494A2657FF3 Q22305374-7DB9F969-5F11-4934-82ED-1A042538A483 Q24654054-1E5BDCD9-9D6E-4990-989F-8F6186479FED Q28081225-21D1B6CA-4026-4AEB-AFA2-FC2831F02E02 Q28299085-E1957089-CAE5-441B-B3A8-FD8026E87B4E Q35577940-E7A03730-0BB1-4BAC-94FF-1A09D302938C Q35859674-547C7FC9-4C50-4EAC-ADFC-B2A1CC5195DE Q35916541-075A8486-7F9C-406C-B4B6-3F847C951123 Q36013808-6F83E69C-EBAB-4EA4-B0AF-AC7106D65ED3 Q36173021-66B59B76-F832-4B89-80E0-039B326F99B9 Q36215180-6A71DE79-9F3E-44D1-9864-1C0B9D205E87 Q36561449-B83A2936-F171-4A01-B02D-48D455F61CCF Q36589415-6FBF69D7-D489-4B9D-A83F-8FBE111F9C64 Q36747445-29036631-C9AC-4773-B030-B2B5B1E9DBCB Q37078422-3FCE29A4-5D3F-496F-AB19-760CB096A917 Q37092884-964D27A0-1140-450C-8B51-1EA39400AD23 Q37427919-C857B885-ACD2-42F4-903E-5AF5499C4CD9 Q37678707-71350773-3673-43E3-BD9E-1B7E429B2BD4 Q37733382-E55E3DDA-6BAB-41D1-A6EB-D24B99150230 Q37789608-D255D688-23AD-491B-96FA-F507C748EEB0 Q37986887-869DFBB6-CF08-4FFE-ACD6-81115F5F70C4 Q38024972-A7837800-FB90-41AB-B50A-1527F0D8DFC0 Q38226265-72401CF2-37AE-40D9-BFDA-52ED63E94E31 Q38231565-FBD6A350-C710-4C65-B5FA-DC11CC3130E4 Q38395351-6E943A68-0B6E-4BF0-9E43-11F9CA928271 Q38395362-FC256FA7-26CE-4C7D-A7C3-83C7F960ABF4 Q38743626-61E51715-1644-4B71-A142-7369E4D61036 Q39113194-03E23983-04FB-4CEC-9FB9-A83FE3BD8135 Q39587842-38FBA137-325A-4B65-ADFD-5F4B28730A40 Q41901944-7206012A-4C6E-4E9D-9A9A-E5F6C2F11907 Q42679429-C1263085-9C33-4FEA-A571-0BAD05ABC315 Q42853777-4338CC14-77F5-4C37-8943-58265B73A431 Q43169442-4062EC8B-C313-4DB8-8D35-884D4464F019 Q43890772-65CF73F1-28F7-477E-A46F-00D07A474E7D Q46365994-FC902793-4F78-4E89-B2D4-32FC42FD722D Q46978533-08D1A23F-2A0C-4CA2-8CED-769A0AF245E1 Q49025194-75837132-F895-4144-9ECA-81F86EF5D0CB Q50066673-1272F334-5D84-44F2-969A-CA94139CE67A Q51539316-450607D0-D639-4F57-8A45-F51CE349C5DE Q52857362-0DBB56F0-6A3C-4B8F-8ABC-3D4971D050D0

P2860

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.

http://www.wikidata.org/entity/Q33905928

description

2003 nî lūn-bûn

@nan

2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

Haploinsufficiency of TNXB is ...... ype of Ehlers-Danlos syndrome.

@ast

Haploinsufficiency of TNXB is ...... ype of Ehlers-Danlos syndrome.

@en

type

label

Haploinsufficiency of TNXB is ...... ype of Ehlers-Danlos syndrome.

@ast

Haploinsufficiency of TNXB is ...... ype of Ehlers-Danlos syndrome.

@en

prefLabel

Haploinsufficiency of TNXB is ...... ype of Ehlers-Danlos syndrome.

@ast

Haploinsufficiency of TNXB is ...... ype of Ehlers-Danlos syndrome.

@en

P1433

Q33905928-E462112C-6FA9-4C5A-836A-26FFDBAC8B4C

P1476

Q33905928-8069D8A1-206F-4A4D-8D7E-1F128AD5BF06

P2093

Q33905928-0C98C9FE-3914-4F8F-A0FD-774BD96DA8A1

Q33905928-1FA339CF-9BB5-4CB3-A65E-42AD4E1F0DB3

Q33905928-39E9ABF3-2F80-40A1-B597-D1486E3E06FA

Q33905928-50643B72-C3D9-464B-A3AD-77BFA2564680

Q33905928-73622515-8FB9-4D34-978A-32C2C1D1C63E

Q33905928-B3D48E46-D4EE-41B0-B336-7494A9AA5245

Q33905928-B8BBC191-D012-4185-A021-0D2ACB9A5E04

Q33905928-E4B69277-D4F7-4975-B766-7E2B129B4DC9

Q33905928-F7AB252F-DCB4-4F29-A736-5541CD3F67CA

P2860

Q33905928-23369F08-72EC-4FFA-B749-B3490B1F5F3D

Q33905928-2B80365C-9EF2-4176-BA7A-3601EB371068

Q33905928-303EABFA-3814-4A0B-A53C-9E5FB81B13E7

Q33905928-3AF84C6E-CEAD-4125-B48A-94E7366606DD

Q33905928-49D96BBA-4EB0-4A40-BA36-ED7D0446DD22

Q33905928-603C3511-17F5-454D-B6D9-810AB7AD9A19

Q33905928-78C2FF03-D151-4DFE-A1A2-1DD9E2127417

Q33905928-BE846DF1-F028-43FE-BA32-66363963C471

Q33905928-C2958768-D82A-40D0-8F7A-7EDAD1E31487

Q33905928-FDC675FA-7A8A-4107-B87B-B43FF383E7A3

P304

Q33905928-8D33DA4F-83CF-4935-99C9-0E86C2E9AEC7

P31

Q33905928-5A95CDF1-EC26-45B5-8F25-7552DB278AB2

P356

Q33905928-0F85B7AC-D326-46D0-BEA1-3E2E9D694B13

P407

Q33905928-72401F3E-F441-4D43-A6D2-E93C29804A88

P433

Q33905928-2422164E-ED7D-4A30-8D21-AE60F7C23B88

P478

Q33905928-58E4DB37-3CE4-46FD-A4DF-934D97161BFE

P577

Q33905928-FB6BD4D6-2A2C-47D5-94EF-AE22D29726EF

P5875

Q33905928-85F27AD2-5689-4050-96E3-54FCD652A75E

P698

Q33905928-9E064184-6164-4B0C-BE4B-8020F56198DF

P921

Q33905928-44A4868C-AC32-4A4C-BA9A-46F9D959E905

Q33905928-5c5f3cd4-64ad-4d3d-a35a-d34164ca247d

P932

Q33905928-79035B33-779F-415F-BCB4-E38550915F4E

P356

P1433

American Journal of Human Genetics

P1476

Haploinsufficiency of TNXB is ...... ype of Ehlers-Danlos syndrome.

@en

P2093

Ben C Hamel

http://www.w3.org/2001/XMLSchema#string

Jan B Boezeman

http://www.w3.org/2001/XMLSchema#string

Jim Bristow

http://www.w3.org/2001/XMLSchema#string

Joost Schalkwijk

http://www.w3.org/2001/XMLSchema#string

Manon C Zweers

http://www.w3.org/2001/XMLSchema#string

Marisol Otero

http://www.w3.org/2001/XMLSchema#string

Martina Kucharekova

http://www.w3.org/2001/XMLSchema#string

Peter M Steijlen

http://www.w3.org/2001/XMLSchema#string

Willow B Dean

http://www.w3.org/2001/XMLSchema#string

P2860

Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition

Hypermobility: features and differential incidence between the sexes.

Articular mobility in an African population.

Joint hypermobility and genetic collagen disorders: are they related?

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.

A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.

Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus.

Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity.

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.

P304

214-217

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1086/376564

http://www.w3.org/2001/XMLSchema#string

P407

P433

1

http://www.w3.org/2001/XMLSchema#string

P478

73

http://www.w3.org/2001/XMLSchema#string

P577

2003-07-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

10657861

http://www.w3.org/2001/XMLSchema#string

P698

12865992

http://www.w3.org/2001/XMLSchema#string

P921

Ehlers-Danlos syndrome

haploinsufficiency

P932

1180584

http://www.w3.org/2001/XMLSchema#string