Piebaldism

Oiso, Naoki; Fukai, Kazuyoshi; Kawada, Akira; Suzuki, Tamio

doi:10.1111/j.1346-8138.2012.01583.x

Cited by 92 publications

(113 citation statements)

References 71 publications

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“…In our experiment, despite a high level of diversity of mtDNA haplotypes heteroplasmy among domestic dogs [26], skin grafts were successfully accepted in at least 20 donor-recipient combinations. In cattle and pigs, it was shown that SCNT-derived tissues were not rejected by the immune system of the nucleus donor after SCNT in skin graft [7], [27], [28]. Our findings suggest that differences of canine mtDNA haplotypes could not elicit skin graft rejection among cloned dogs, as previously observed in cattle and pigs.…”

Section: Resultssupporting

confidence: 81%

Survival of Skin Graft between Transgenic Cloned Dogs and Non-Transgenic Cloned Dogs

Kim

et al. 2014

PLoS ONE

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Whereas it has been assumed that genetically modified tissues or cells derived from somatic cell nuclear transfer (SCNT) should be accepted by a host of the same species, their immune compatibility has not been extensively explored. To identify acceptance of SCNT-derived cells or tissues, skin grafts were performed between cloned dogs that were identical except for their mitochondrial DNA (mtDNA) haplotypes and foreign gene. We showed here that differences in mtDNA haplotypes and genetic modification did not elicit immune responses in these dogs: 1) skin tissues from genetically-modified cloned dogs were successfully transplanted into genetically-modified cloned dogs with different mtDNA haplotype under three successive grafts over 63 days; and 2) non-transgenic cloned tissues were accepted into transgenic cloned syngeneic recipients with different mtDNA haplotypes and vice versa under two successive grafts over 63 days. In addition, expression of the inserted gene was maintained, being functional without eliciting graft rejection. In conclusion, these results show that transplanting genetically-modified tissues into normal, syngeneic or genetically-modified recipient dogs with different mtDNA haplotypes do not elicit skin graft rejection or affect expression of the inserted gene. Therefore, therapeutically valuable tissue derived from SCNT with genetic modification might be used safely in clinical applications for patients with diseased tissues.

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Section: Resultssupporting

confidence: 81%

Survival of Skin Graft between Transgenic Cloned Dogs and Non-Transgenic Cloned Dogs

Kim

et al. 2014

PLoS ONE

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“…These genetic studies provide further evidence that the clinical diversity of piebalism depends on the the site and the type of mutation in the KIT gene [10].…”

Section: Genetics/pathogenesismentioning

confidence: 97%

“…The binding of KITLG (KIT ligand, stem cell factor) to the extracellular domain leads to receptor dimerization, intracellular autophosphorylation and tyrosine kinase activation. The binding of KITLG to KIT regulates the migration of melanocytes, cell proliferation, differentiation, survival, melanogenesis and melanosome transfer [10].…”

Section: Genetics/pathogenesismentioning

confidence: 99%

Pigment Genodermatoses Affecting Melanocyte Development and Migration from the Neural Crest: Piebaldism, Waardenburg Syndrome and Cross- McKusick-Breen Syndrome

Chatzinasiou¹,

Stratigos²

2015

Pigmentary Disorders

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Piebaldism, Waardenburg syndrome and Cross-McKusick-Breen syndrome are rare disorders characterized by congenital skin and hair hypopigmentation. Piebaldism is inherited in an autosomal dominant pattern and Waardenburg syndrome is mostly transmitted in an autosomal dominant manner. These diseases are caused by abnormal migration of melanoblasts from the neuroectoderm into the skin. Cross-McKusick-Breen syndrome is an autosomal recessive disorder in which the epidermal melanocyte numbers are normal, but most melanosomes are in stage II or III and are probably characterized by defective melanosomal transfer. This publication describes the clinical and genetic characteristics of the three selected genodermatoses. Although rare and phenotypically diverse, the study of these diseases has yielded significant knowledge on the genes that regulate the migration of melanocytes and the mechanisms that control skin, hair and eye pigmentation.

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“…Phenotypic severity depends on the type and site of the mutation (55,56). Mutations in the TK region (TK1, 582–684 and TK2, 762–973) exert a dominant-negative effect, usually resulting in a severe phenotype, whereas mild cases are frequently due to mutations in the extracellular region.…”

Section: Kitlg/kit Signaling Pathway-associated Genetic Disorders Witmentioning

confidence: 99%

Molecular screening strategies for NF1-like syndromes with café-au-lait macules

Zhang

Yao

2016

Molecular Medicine Reports

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Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto-oncogene receptor tyrosine kinase and Ras/mitogen-activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone. Furthermore, certain syndromes are clinically overlapping and molecular testing is a vital diagnostic method. The present review aims to provide an overview of these ‘NF1-like’ inherited diseases and recommend a cost-effective strategy for making a clear diagnosis among these diseases with an ambiguous borderline.

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Piebaldism

Cited by 92 publications

References 71 publications

Survival of Skin Graft between Transgenic Cloned Dogs and Non-Transgenic Cloned Dogs

Survival of Skin Graft between Transgenic Cloned Dogs and Non-Transgenic Cloned Dogs

Pigment Genodermatoses Affecting Melanocyte Development and Migration from the Neural Crest: Piebaldism, Waardenburg Syndrome and Cross- McKusick-Breen Syndrome

Molecular screening strategies for NF1-like syndromes with café-au-lait macules

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