Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome - Wikidata - wikimedia - TriplyDB

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

http://www.wikidata.org/entity/Q34416602

about

Human genetic disorders and knockout mice deficient in glycosaminoglycan Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3 Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.The Ehlers-Danlos syndromes, rare types.Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.p57(Kip2) knock-in mouse reveals CDK-independent contribution in the development of Beckwith-Wiedemann syndrome.Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.The Immunological Regulation Roles of Porcine β-1, 4 Galactosyltransferase V (B4GALT5) in PRRSV Infection.SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

P2860

Q26995332-3EECACE1-19C9-4E7A-8940-17586DB91B48 Q28118780-E916A2F4-C57D-4C57-A1B4-70C556D96D09 Q33851493-0C6D499E-B34C-4134-9396-A25D04F2C931 Q34518676-56D08688-6A3A-4829-8736-A1A49CF1FAED Q35980440-6AD8011D-ABF5-4DD3-81F7-248018483101 Q36177380-336AA2B4-C06B-448F-923F-59281B2EE19F Q38470441-F4EDFFF7-11F0-44C6-A53C-DDF6B1E83C33 Q38675062-EB70797A-73D7-41C5-AF3B-F00CD21623BF Q38743626-F5894BA6-D9C4-4660-A934-1AA71BA2ED52 Q38922256-FD544375-29B9-408F-BD2E-DC39CCEE9894 Q40213486-43B2B857-4D1E-48E5-9448-F48FCED27154 Q42059726-B6D1D076-C86E-4291-94AE-697ED3C0722C Q42355486-52862A0A-2021-48CB-8BA0-53D0B1270D47 Q47555943-5A7DC606-6C85-47B9-9381-69E61EEC534F Q47859621-DAD6EF5C-86FE-4F36-B6F2-507B48855EB2 Q50525407-010E1AE2-0B80-4930-80BD-2CA441A04043 Q51126231-CFDD9CD6-CAB8-4718-BF01-66497F972CDA Q53809105-6D98F144-71A3-4992-9817-00F344E85F38 Q54070899-0D360458-A77F-459B-890A-AFEEC0E44273 Q55363421-4A3ADF3B-D6F5-4524-9680-4900DA6DFDFA Q58063397-55195D35-28F8-45F0-892B-CA231EA8F616

P2860

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

http://www.wikidata.org/entity/Q34416602

description

2014 nî lūn-bûn

@nan

2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Expanding the clinical spectru ...... sen of Reunion Island syndrome

@ast

Expanding the clinical spectru ...... sen of Reunion Island syndrome

@en

Expanding the clinical spectru ...... sen of Reunion Island syndrome

@nl

type

label

Expanding the clinical spectru ...... sen of Reunion Island syndrome

@ast

Expanding the clinical spectru ...... sen of Reunion Island syndrome

@en

Expanding the clinical spectru ...... sen of Reunion Island syndrome

@nl

prefLabel

Expanding the clinical spectru ...... sen of Reunion Island syndrome

@ast

Expanding the clinical spectru ...... sen of Reunion Island syndrome

@en

Expanding the clinical spectru ...... sen of Reunion Island syndrome

@nl

P1433

Q34416602-71E02B3C-C3F5-41CB-98A9-8FE49AD9D7DB

P1476

Q34416602-F4E64C5D-1CDF-4A37-843A-324107EE8D3E

P2093

Q34416602-0BDAC45D-FCE6-4A96-B8D6-EFDA3F3C9C29

Q34416602-1092F9A1-CBF5-4C3B-8DD9-AA94460D1C22

Q34416602-23192A48-748F-4F43-ABEC-C5C59C613381

Q34416602-52D46889-B04E-49B6-9847-2217D293D54C

Q34416602-638852E4-65F4-4604-8E47-2C87B4D46E75

Q34416602-B5A4EF5D-F440-403F-AC81-87A96297FAC7

Q34416602-C519F6EE-63B5-4AC3-A08D-890B72E073A4

Q34416602-F80B144F-83A5-4CB4-B137-7EC8ECF21F93

P2860

Q34416602-0A9D89CC-357D-4D7A-B54C-70B657557CE0

Q34416602-0D179017-6A6D-4B54-BC20-E6913D800FA2

Q34416602-35014128-1393-4056-80A3-C1D2633E2E9F

Q34416602-3E59ECAA-048A-41C8-A730-89B87F8603FF

Q34416602-44335471-9E10-4D86-A678-D84D068BE97E

Q34416602-569547AF-AD8F-423F-8C22-D3E8E04DC987

Q34416602-5855F419-3285-4AB9-B57E-2ABEB1FCAA29

Q34416602-5DC4DFCB-B043-41B9-8952-2F292E85518D

Q34416602-68613339-8E24-450B-8BA5-1EAD9634F60F

Q34416602-6C0E8AA2-19DF-4332-A4A5-246AB0F79BAC

P2888

Q34416602-9EA449E6-ABAF-4E27-86A7-61CBCBFAF632

P304

Q34416602-8A00AEBF-86A1-46DC-81C1-AA2D52E9DA6F

P31

Q34416602-800F2E72-2502-43E9-9E2F-534C874D02D1

P356

Q34416602-4FFEA6EC-B3A5-4D9C-8031-ECA4B5FA0520

P433

Q34416602-E149C33C-172F-4497-B7DB-ED2115F84785

P478

Q34416602-FBCE28EF-F444-4675-B0DD-0513B6FAB18A

P50

Q34416602-055DF028-4220-4A5D-B64F-472E0AF2A759

Q34416602-DB21E54D-B4CB-49C6-9C48-840C9E721B51

P577

Q34416602-8F37ABDA-685F-4616-8AEF-FAB20589D50A

P5875

Q34416602-50FF0E59-6A67-4B18-9F31-A980099444CC

P698

Q34416602-0BDC2D4E-D252-4F8D-9C39-890DCA917A9A

P932

Q34416602-480DE7AB-EBB5-41F8-9147-8656389A12C9

P356

P1433

European Journal of Human Genetics

P1476

Expanding the clinical spectru ...... sen of Reunion Island syndrome

@en

P2093

Bérénice Doray

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

Christine Payet

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

François Cartault

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

Hanitra Randrianaivo

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

Jean-Marc Laville

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

Jeannine Vellayoudom

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

Marie-Line Jacquemont

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

Patrick Munier

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

P2860

Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family

Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene

Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6)

Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7)

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid

Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

P2888

P304

49-53

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

P31

scholarly article

P356

10.1038/EJHG.2014.60

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

P433

1

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

P478

23

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

P50

Valérie Cormier-Daire

P577

2014-04-23T00:00:00Z

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

P5875

261801449

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

P698

24755949

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

P932

4266744

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