Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.
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Cone rod dystrophiesDistinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)P-cadherin and the journey to cancer metastasisA novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia.CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations.Cadherins as targets for genetic diseases.Light-evoked responses of the mouse retinal pigment epithelium.Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.The polarity of the retinal pigment epithelium.Focusing on the glomerular slit diaphragm: podocin enters the pictureTo the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat BreedIntegration site preference of xenotropic murine leukemia virus-related virus, a new human retrovirus associated with prostate cancer.Towards a new classification of ectodermal dysplasias.Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutationWhole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophyP-cadherin expression in breast cancer: a review.A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.Molecular basis of the glomerular filtration: nephrin and the emerging protein complex at the podocyte slit diaphragm.Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrityHypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapyDo you know this syndrome?Mimicking hair disorders by genetic manipulation of organ-cultured human hair folliclesGermline CDH1 deletions in hereditary diffuse gastric cancer familiesTo grow or not to grow: hair morphogenesis and human genetic hair disordersAppropriately differentiated ARPE-19 cells regain phenotype and gene expression profiles similar to those of native RPE cells.Do cell junction protein mutations cause an airway phenotype in mice or humans?Cell-cell connectivity: desmosomes and disease.Congenital hair loss disorders: rare, but not too rare.Genetics of human isolated hereditary hair loss disorders.Epidermal cell junctions and their regulation by p63 in health and disease.The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle.Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).The epidermal polarity protein Par3 is a non-cell autonomous suppressor of malignant melanoma.The X-ray structure of human P-cadherin EC1-EC2 in a closed conformation provides insight into the type I cadherin dimerization pathway.Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.CDHR1 mutations in retinal dystrophies.Cell-cell adhesion proteins in melanocytic pilomatrix carcinoma.
P2860
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P2860
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh
2001年學術文章
@zh-hant
name
Hypotrichosis with juvenile ma ...... in CDH3, encoding P-cadherin.
@en
Hypotrichosis with juvenile ma ...... in CDH3, encoding P-cadherin.
@nl
type
label
Hypotrichosis with juvenile ma ...... in CDH3, encoding P-cadherin.
@en
Hypotrichosis with juvenile ma ...... in CDH3, encoding P-cadherin.
@nl
prefLabel
Hypotrichosis with juvenile ma ...... in CDH3, encoding P-cadherin.
@en
Hypotrichosis with juvenile ma ...... in CDH3, encoding P-cadherin.
@nl
P2093
P356
P1433
P1476
Hypotrichosis with juvenile ma ...... in CDH3, encoding P-cadherin.
@en
P2093
Anbinder Y
Petronius D
P2888
P304
P356
10.1038/NG716
P407
P577
2001-10-01T00:00:00Z
P5875
P6179
1013827712