Translational benefits from research on rare genodermatoses

scientific article published on May 2004

Translational benefits from research on rare genodermatoses is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P356DOI10.1111/J.1440-0960.2004.00070.X
P698PubMed publication ID15068453

P2093author name stringJohn A McGrath
P2860cites workThe Sequence of the Human GenomeQ22065842
Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesisQ24295251
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndromeQ24532354
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndromeQ28201373
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosinQ28204920
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membraneQ28284187
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).Q33958324
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locusQ34116785
Pleckstrin homology domains and the cytoskeletonQ34120310
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.Q34179586
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndromeQ34187407
Gene mutations, great expectationsQ34258806
Searching for candidate genes in the new millennium.Q34291344
Extracellular matrix and keratinocyte migration.Q34419124
Molecular genetics of heritable blistering disordersQ34439329
Cutaneous gene transfer for skin and systemic diseasesQ34696240
Lipoid proteinosisQ35020661
The molecular genetics of the genodermatoses: progress to date and future directions.Q35048159
Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapyQ35056805
A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell lineQ40634111
Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosaQ40690917
Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locusQ40725419
PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosaQ45863240
Stable nonviral genetic correction of inherited human skin diseaseQ46930709
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.Q54767571
Preimplantation genetic diagnosisQ56337915
OMIM passes the 1,000-disease-gene markQ57161966
Autoantibodies to extracellular matrix protein 1 in lichen sclerosusQ59406032
Kindler syndrome complicated by squamous cell carcinoma of the hard palate: successful treatment with high-dose radiation therapy and granulocyte-macrophage colony-stimulating factorQ74079654
P433issue2
P407language of work or nameEnglishQ1860
P304page(s)89-93
P577publication date2004-05-01
P1433published inAustralasian Journal of DermatologyQ15760350
P1476titleTranslational benefits from research on rare genodermatoses
P478volume45

Reverse relations

cites work (P2860)
Q37405424Cutaneous mosaicism: a molecular and clinical review
Q36809791Cutaneous mosaicism: right before our eyes
Q37138571Filaggrin and the great epidermal barrier grief
Q36399840Target proteins in inherited and acquired blistering skin disorders
Q37968535Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm

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