Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations.
about
Life cycle of connexins in health and diseaseLoss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like diseaseThe role of connexins in ear and skin physiology - functional insights from disease-associated mutationsCellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.Defining a minimal motif required to prevent connexin oligomerization in the endoplasmic reticulumConnexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defectsGap-junction channels dysfunction in deafness and hearing loss.Syndromic and non-syndromic disease-linked Cx43 mutations.Up-regulation of BMP2/4 signaling increases both osteoblast-specific marker expression and bone marrow adipogenesis in Gja1Jrt/+ stromal cell cultures.Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel functionConnexinopathies: a structural and functional glimpseClosing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative mannerConformational maturation and post-ER multisubunit assembly of gap junction proteins.Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.Connexin43 reduces melanoma growth within a keratinocyte microenvironment and during tumorigenesis in vivo.Connexin-26 mutations in deafness and skin disease.Connexins: key mediators of endocrine function.GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.Connexins and gap junctions in the inner ear--it's not just about K⁺ recyclingMechanisms linking connexin mutations to human diseases.Connexin channels in congenital skin disorders.Human diseases associated with connexin mutations.Rat epidermal keratinocytes as an organotypic model for examining the role of Cx43 and Cx26 in skin differentiation.Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations.Connexin levels regulate keratinocyte differentiation in the epidermis.Connexin43 with a cytoplasmic loop deletion inhibits the function of several connexins.The potency of the fs260 connexin43 mutant to impair keratinocyte differentiation is distinct from other disease-linked connexin43 mutants.Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.Serine protease hepsin regulates hepatocyte size and hemodynamic retention of tumor cells by hepatocyte growth factor signaling in mice.Connexins in Cardiovascular and Neurovascular Health and Disease: Pharmacological Implications.Cx26 drives self-renewal in triple-negative breast cancer via interaction with NANOG and focal adhesion kinase.Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.The G60S connexin 43 mutation activates the osteoblast lineage and results in a resorption-stimulating bone matrix and abrogation of old-age-related bone loss.Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.Roles of aberrant hemichannel activities due to mutant connexin26 in the pathogenesis of KID syndrome
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Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Functional domain mapping and ...... x26 disease-causing mutations.
@en
type
label
Functional domain mapping and ...... x26 disease-causing mutations.
@en
prefLabel
Functional domain mapping and ...... x26 disease-causing mutations.
@en
P2860
P356
P1476
Functional domain mapping and ...... x26 disease-causing mutations.
@en
P2093
Debra Telford
Tamsin Thomas
P2860
P304
19157-19168
P356
10.1074/JBC.M314117200
P407
P50
P577
2004-02-19T00:00:00Z