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Showing 1–17 of 17 results

Advanced filters: Author: Jouni Uitto Clear advanced filters

Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

Leena Pulkkinen
Angela M. Christiano
Jouni Uitto
Research01 Mar 1994
Nature Genetics

Volume: 6, P: 293-298
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

Angela M. Christiano
Daniel S. Greenspan
Jouni Uitto
Research01 May 1993
Nature Genetics

Volume: 4, P: 62-66
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

Elena Maestrini
Anthony P. Monaco
Angela M. Christiano
Research01 May 1996
Nature Genetics

Volume: 13, P: 70-77
Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

John A. McGrath
Biljana Gatalica
Jouni Uitto
Research01 Sept 1995
Nature Genetics

Volume: 11, P: 83-86
Cooperation between SMAD and NF-κB in growth factor regulated type VII collagen gene expression

Atsushi Kon
Laurence Vindevoghel
Alain Mauviel
Research15 Mar 1999
Oncogene

Volume: 18, P: 1837-1844
A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa

Latifa Hilal
Ariane Rochat
Alain Hovnanian
Research01 Nov 1993
Nature Genetics

Volume: 5, P: 287-293
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

Alan D. Irvine
Laura D. Corden
W.H. Irwin McLean
Research01 Jun 1997
Nature Genetics

Volume: 16, P: 184-187
Advocacy groups as research organizations: the PXE International example

Translational research for rare genetic diseases often suffers from a lack of funding. Advocacy groups that support individuals who are affected by such conditions are well placed to motivate and coordinate research that is aimed squarely at generating translational advances.

Sharon F. Terry
Patrick F. Terry
Lionel G. Bercovitch
Comments & Opinion01 Feb 2007
Nature Reviews Genetics

Volume: 8, P: 157-164
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5)

Daniel Aberdam
Marie-Florence Galliano
Guerrino Meneguzzi
Research01 Mar 1994
Nature Genetics

Volume: 6, P: 299-304
Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

Frédérique Vidal
Daniel Aberdam
Guerrino Meneguzzi
Research01 Jun 1995
Nature Genetics

Volume: 10, P: 229-234
Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

Leila Youssefian
Hassan Vahidnezhad
Jouni Uitto
Research06 Sept 2017
European Journal of Human Genetics

Volume: 25, P: 1282-1285
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

Hassan Vahidnezhad
Leila Youssefian
Jouni Uitto
ResearchOpen Access10 Dec 2020
Scientific Reports

Volume: 10, P: 1-10
Epidermolysis Bullosa with Congenital Pyloric Atresia: Novel Mutations in the β4 Integrin Gene (ITGB4) and Genotype/Phenotype Correlations

Aoi Nakano
Leena Pulkkinen
Jouni Uitto
Research01 May 2001
Pediatric Research

Volume: 49, P: 618-626
Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6^tm1Jfk and Enpp1^asj mutant mice

Qiaoli Li
David W Chou
Jouni Uitto
Research14 Apr 2014
Laboratory Investigation

Volume: 94, P: 623-632
Crescentic Glomerulonephritis and Subepidermal Blisters with Autoantibodies to α5 and α6 Chains of Type IV Collagen

Reza F Ghohestani
Sherry L Rotunda
Jouni Uitto
Reviews01 May 2003
Laboratory Investigation

Volume: 83, P: 605-611
Smad3/AP-1 interactions control transcriptional responses to TGF-β in a promoter-specific manner

Franck Verrecchia
Laurence Vindevoghel
Alain Mauviel
Research22 Jun 2001
Oncogene

Volume: 20, P: 3332-3340
Metastasis-associated protein (MTA)1 enhances migration, invasion, and anchorage-independent survival of immortalized human keratinocytes

Mỹ G Mahoney
Anisha Simpson
Ulrich Rodeck
Research10 Apr 2002
Oncogene

Volume: 21, P: 2161-2170

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Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

Cooperation between SMAD and NF-κB in growth factor regulated type VII collagen gene expression

A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

Advocacy groups as research organizations: the PXE International example

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5)

Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

Epidermolysis Bullosa with Congenital Pyloric Atresia: Novel Mutations in the β4 Integrin Gene (ITGB4) and Genotype/Phenotype Correlations

Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6^tm1Jfk and Enpp1^asj mutant mice

Crescentic Glomerulonephritis and Subepidermal Blisters with Autoantibodies to α5 and α6 Chains of Type IV Collagen

Smad3/AP-1 interactions control transcriptional responses to TGF-β in a promoter-specific manner

Metastasis-associated protein (MTA)1 enhances migration, invasion, and anchorage-independent survival of immortalized human keratinocytes

Search

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