Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC)
about
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbingExome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathyHPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbingPrimary hypertrophic osteoarthropathy: an update.Genetics of human isolated hereditary nail disorders.Clubbing and hypertrophic osteoarthropathy: insights in diagnosis, pathophysiology, and clinical significance.Digital clubbing: forms, associations and pathophysiology.Genetics of syndromic and non-syndromic hereditary nail disorders.A Common Mutation and a Novel Mutation in the HPGD Gene in Nine Patients with Primary Hypertrophic Osteoarthropathy.Nrk2b-mediated NAD+ production regulates cell adhesion and is required for muscle morphogenesis in vivo: Nrk2b and NAD+ in muscle morphogenesis.A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations.Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing.A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.Polymorphisms in fatty-acid-metabolism-related genes are associated with colorectal cancer risk.A novel mutation in the gene results in the unusual phenotype of palmoplantar keratoderma with digital clubbing and hyperhidrosis
P2860
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P2860
Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC)
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutation in the HPGD gene enco ...... ongenital nail clubbing (ICNC)
@ast
Mutation in the HPGD gene enco ...... ongenital nail clubbing (ICNC)
@en
Mutation in the HPGD gene enco ...... ongenital nail clubbing (ICNC)
@nl
type
label
Mutation in the HPGD gene enco ...... ongenital nail clubbing (ICNC)
@ast
Mutation in the HPGD gene enco ...... ongenital nail clubbing (ICNC)
@en
Mutation in the HPGD gene enco ...... ongenital nail clubbing (ICNC)
@nl
prefLabel
Mutation in the HPGD gene enco ...... ongenital nail clubbing (ICNC)
@ast
Mutation in the HPGD gene enco ...... ongenital nail clubbing (ICNC)
@en
Mutation in the HPGD gene enco ...... ongenital nail clubbing (ICNC)
@nl
P2093
P356
P1476
Mutation in the HPGD gene enco ...... ongenital nail clubbing (ICNC)
@en
P2093
P356
10.1136/JMG.2008.061234
P407
P577
2009-01-01T00:00:00Z