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[PMID]:27864007
[Au] Autor:Wang P; Kang XJ; Tang XH; Liu JY; Li WZ; Wang WJ; Liang SN; Feng YY; Ding Y; Chen WJ
[Ad] Endereço:Xinjiang Medical University, China; People's Hospital of Xinjiang Uygur Autonomous Region, China.
[Ti] Título:Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.
[So] Source:Cancer Genet;209(11):515-524, 2016 Nov.
[Is] ISSN:2210-7762
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Epidermolytic palmoplantar keratoderma (EPPK) is a rare autosomal dominant skin disorder characterized by diffuse hyperkeratosis on the palms and soles. Whole-exome sequencing (WES) has become a powerful tool for the detection of rare causal variants of Mendelian disorders. However, no causal gene for EPPK in the Uygur population has been identified until now, and no treatment exists than can address the underlying pathology.WES analysis was undertaken on two individuals from a large Uygur EPPK pedigree whose disease locus mapped to 17q21.2 (chr:38994621-39893408) following previous linkage analysis. KRT9 (NM_000226.3:c.487C>T, p.Arg163Trp), and KRT15 (XM_005257346.1:c.212G>T, XP_005257403.1:p.Gly71Val) located in this region, have been identified as two candidate causative genes for EPPK in the Uygur family. Sanger sequencing was conducted on this region in other affected individuals (n = 38) from this family, non-affected individuals (n = 56) from this family and 100 unrelated controls. The missense mutation KRT9 c.487C>T, identified in this large Uygur population, is a potential causative mutation. To date, EPPK has no effective therapy, and siRNA is a potential avenue for EPPK therapy. To investigate this, full-length wild-type Keratin9 (KRT9; pKRT9-WT) and p.Arg163Trp (pKRT9-R163W) were then transfected into HaCaT cells. The small interfering RNAs targeting the KRT9 R163W mutant and wildtype KRT9 were transfected into HaCaT cells, and total RNA isolated at 72 h post-transfection. Quantitative polymerase chain reaction and western blotting were used to analyse the effects of knock-down on KRT9 mRNA and protein levels, respectively. siRNA was shown to specifically inhibit mutant KRT9 mRNA and protein expression (p < 0.01, with 95% confidence limits). Our study suggests that KRT9 is a causal gene for EPPK. This information is helpful for understanding the pathogenesis of EPPK in the Uygur population and raises the possibility of designing a novel siRNA treatment strategy for this population of EPPK patients.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Queratina-9/genética
Ceratodermia Palmar e Plantar Epidermolítica/genética
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Asiático/etnologia
Linhagem Celular Tumoral
China/etnologia
Feminino
Técnicas de Silenciamento de Genes
Predisposição Genética para Doença
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Ceratodermia Palmar e Plantar Epidermolítica/etnologia
Masculino
Linhagem
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KRT9 protein, human); 0 (Keratin-9)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170522
[Lr] Data última revisão:
170522
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161120
[St] Status:MEDLINE


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[PMID]:27666198
[Au] Autor:Zhang J; Zhang G; Ni C; Cheng R; Liang J; Li M; Yao Z
[Ad] Endereço:Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
[Ti] Título:Nagashima-type palmoplantar keratosis in a Chinese Han population.
[So] Source:Mol Med Rep;14(5):4049-4054, 2016 Nov.
[Is] ISSN:1791-3004
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing of the entire coding regions of SERPINB7, SLURP1, AQP5, CSTA, KRT1 and KRT9 genes. Direct sequencing of SERPINB7 revealed five homozygous founder mutations (c.796C>T) and four compound heterozygous mutations in nine patients, including one novel mutation (c.122_127delTGGTCC). Nine out of the 12 patients were diagnosed with NPPK due to SERPINB7 pathogenic mutations, and the results expanded the known mutation spectrum of NPPK. Taking the other seven reported Chinese patients, who had been definitively diagnosed with NPPK by genetic testing, into account, the present study further demonstrated that NPPK is a common entity in Mainland China, and c.796C>T is the most prevalent mutation and exerts a founder effect. Furthermore, the NPPK cases described in the current study presented a consistently mild phenotype, as compared with the degrees of phenotypic variability associated with other types of relatively severe PPK, including Mal de Meleda and Olmsted syndrome.
[Mh] Termos MeSH primário: Testes Genéticos
Ceratodermia Palmar e Plantar/genética
Serpinas/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Antígenos Ly/genética
Aquaporina 5/genética
Grupo com Ancestrais do Continente Asiático
Criança
Pré-Escolar
China
Cistatina A/genética
Feminino
Efeito Fundador
Heterozigoto
Sequenciamento de Nucleotídeos em Larga Escala
Homozigoto
Seres Humanos
Lactente
Queratina-1/genética
Queratina-9/genética
Ceratodermia Palmar e Plantar/patologia
Masculino
Meia-Idade
Mutação
Linhagem
Ativador de Plasminogênio Tipo Uroquinase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (AQP5 protein, human); 0 (Antigens, Ly); 0 (Aquaporin 5); 0 (Cystatin A); 0 (KRT1 protein, human); 0 (KRT9 protein, human); 0 (Keratin-1); 0 (Keratin-9); 0 (SERPINB7 protein, human); 0 (SLURP1 protein, human); 0 (Serpins); 80209-89-8 (CSTA protein, human); EC 3.4.21.73 (Urokinase-Type Plasminogen Activator)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170410
[Lr] Data última revisão:
170410
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160927
[St] Status:MEDLINE
[do] DOI:10.3892/mmr.2016.5757


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[PMID]:27105735
[Au] Autor:Kim D; Hossain MZ; Nieves A; Gu L; Ratliff TS; Mi Oh S; Park A; Han S; Yang NB; Qi J; Taube JM; Kang S; Garza LA
[Ad] Endereço:Department of Dermatology, Johns Hopkins School of Medicine, Baltimore, Maryland.
[Ti] Título:To Control Site-Specific Skin Gene Expression, Autocrine Mimics Paracrine Canonical Wnt Signaling and Is Activated Ectopically in Skin Disease.
[So] Source:Am J Pathol;186(5):1140-50, 2016 May.
[Is] ISSN:1525-2191
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Despite similar components, the heterogeneity of skin characteristics across the human body is enormous. It is classically believed that site-specific fibroblasts in the dermis control postnatal skin identity by modulating the behavior of the surface-overlying keratinocytes in the epidermis. To begin testing this hypothesis, we characterized the gene expression differences between volar (ventral; palmoplantar) and nonvolar (dorsal) human skin. We show that KERATIN 9 (KRT9) is the most uniquely enriched transcript in volar skin, consistent with its etiology in genetic diseases of the palms and soles. In addition, ectopic KRT9 expression is selectively activated by volar fibroblasts. However, KRT9 expression occurs in the absence of all fibroblasts, although not to the maximal levels induced by fibroblasts. Through gain-of-function and loss-of-function experiments, we demonstrate that the mechanism is through overlapping paracrine or autocrine canonical WNT-ß-catenin signaling in each respective context. Finally, as an in vivo example of ectopic expression of KRT9 independent of volar fibroblasts, we demonstrate that in the human skin disease lichen simplex chronicus, WNT5a and KRT9 are robustly activated outside of volar sites. These results highlight the complexities of site-specific gene expression and its disruption in skin disease.
[Mh] Termos MeSH primário: Dermatoses do Pé/metabolismo
Dermatoses da Mão/metabolismo
Queratina-9/metabolismo
Pele/metabolismo
Via de Sinalização Wnt/fisiologia
[Mh] Termos MeSH secundário: Animais
Diferenciação Celular/fisiologia
Feminino
Fibroblastos/fisiologia
Imunofluorescência
Expressão Gênica/fisiologia
Técnicas de Silenciamento de Genes
Seres Humanos
Queratina-5/metabolismo
Queratina-9/genética
Queratinócitos/fisiologia
Masculino
Camundongos Endogâmicos C57BL
Neurodermatite/metabolismo
Psoríase/metabolismo
RNA Mensageiro/metabolismo
Via de Sinalização Wnt/genética
Proteína Wnt-5a/metabolismo
beta Catenina/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Keratin-5); 0 (Keratin-9); 0 (RNA, Messenger); 0 (Wnt-5a Protein); 0 (beta Catenin)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170522
[Lr] Data última revisão:
170522
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:160424
[St] Status:MEDLINE


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[PMID]:26973255
[Au] Autor:Richens JL; Spencer HL; Butler M; Cantlay F; Vere KA; Bajaj N; Morgan K; O'Shea P
[Ad] Endereço:Cell Biophysics Group, School of Life Sciences, University of Nottingham, University Park, Nottingham, United Kingdom.
[Ti] Título:Rationalising the role of Keratin 9 as a biomarker for Alzheimer's disease.
[So] Source:Sci Rep;6:22962, 2016 Mar 14.
[Is] ISSN:2045-2322
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Keratin 9 was recently identified as an important component of a biomarker panel which demonstrated a high diagnostic accuracy (87%) for Alzheimer's disease (AD). Understanding how a protein which is predominantly expressed in palmoplantar epidermis is implicated in AD may shed new light on the mechanisms underlying the disease. Here we use immunoassays to examine blood plasma expression patterns of Keratin 9 and its relationship to other AD-associated proteins. We correlate this with the use of an in silico analysis tool VisANT to elucidate possible pathways through which the involvement of Keratin 9 may take place. We identify possible links with Dickkopf-1, a negative regulator of the wnt pathway, and propose that the abnormal expression of Keratin 9 in AD blood and cerebrospinal fluid may be a result of blood brain barrier dysregulation and disruption of the ubiquitin proteasome system. Our findings suggest that dysregulated Keratin 9 expression is a consequence of AD pathology but, as it interacts with a broad range of proteins, it may have other, as yet uncharacterized, downstream effects which could contribute to AD onset and progression.
[Mh] Termos MeSH primário: Doença de Alzheimer/metabolismo
Biomarcadores/análise
Queratina-9/análise
Transdução de Sinais
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Doença de Alzheimer/diagnóstico
Doença de Alzheimer/fisiopatologia
Peptídeos beta-Amiloides/metabolismo
Apolipoproteínas E/metabolismo
Biomarcadores/sangue
Barreira Hematoencefálica/metabolismo
Estudos de Coortes
Biologia Computacional/métodos
Feminino
Seres Humanos
Imunoensaio/métodos
Peptídeos e Proteínas de Sinalização Intercelular/metabolismo
Queratina-9/metabolismo
Queratina-9/fisiologia
Masculino
Fragmentos de Peptídeos/metabolismo
Complexo de Endopeptidases do Proteassoma/metabolismo
Ligação Proteica
Mapas de Interação de Proteínas
Proteínas tau/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Amyloid beta-Peptides); 0 (Apolipoproteins E); 0 (Biomarkers); 0 (DKK1 protein, human); 0 (Intercellular Signaling Peptides and Proteins); 0 (Keratin-9); 0 (Peptide Fragments); 0 (amyloid beta-protein (1-42)); 0 (tau Proteins); EC 3.4.25.1 (Proteasome Endopeptidase Complex)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160315
[St] Status:MEDLINE
[do] DOI:10.1038/srep22962


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[PMID]:26724832
[Au] Autor:Uemura N; Okazaki M; Mori H
[Ad] Endereço:Department of Plastic and Reconstructive Surgery, Graduate School of Medical Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan. noriplas@tmd.ac.jp.
[Ti] Título:Anatomical and histological study to determine the border of sole skin.
[So] Source:Surg Radiol Anat;38(7):767-73, 2016 Sep.
[Is] ISSN:1279-8517
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Transfer of a free skin graft from the submalleolar or plantar instep area to the palmoplantar area and finger defects is widely performed; however, the sites and the border of plantar skin have yet to be examined in detail. The aim of this study was to determine the border of sole skin. METHODS: Twelve paraformaldehyde-fixed cadavers were examined. Skin specimens were harvested from an area from the top of the medial malleolus extending to the top of the lateral malleolus of the right foot. The paraffin-embedded skin specimens were analyzed using histological (hematoxylin and eosin, Fontana-Masson, and elastica van Gieson stains) and immunohistochemical (cytokeratin 9) techniques. RESULTS: CK9-positive cells were present at the points between 21 and 78 % of the intermalleolar distance measured from the tops of the medial and lateral malleoli. The melanin index abruptly changed at the points 25 ± 7.1 and 75 ± 4.2 %. The skin thickness and amount of elastic fibers changed greatly at the points between 20 and 30 % and between 70 and 80 % of the intermalleolar distance. CONCLUSIONS: Submalleolar skin is quite different from sole skin. The border of sole skin lies at the points between 20 and 25 % of the intermalleolar distance from the medial malleolus, which macroscopically corresponds to the border of skin maceration. It would be better to use the submalleolar area for grafts for the dorsum of the fingers or toes, and the plantar instep area for the ventral areas of the fingers or toes.
[Mh] Termos MeSH primário: Derme/anatomia & histologia
Epiderme/anatomia & histologia
Calcanhar/anatomia & histologia
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Feminino
Seres Humanos
Queratina-9/análise
Queratinócitos
Masculino
Melaninas/análise
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Keratin-9); 0 (Melanins)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160104
[St] Status:MEDLINE
[do] DOI:10.1007/s00276-015-1609-2


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[PMID]:26603179
[Au] Autor:Fischer H; Langbein L; Reichelt J; Buchberger M; Tschachler E; Eckhart L
[Ad] Endereço:Department of Dermatology, Medical University of Vienna, 1090 Vienna, Austria. Electronic address: heinz.fischer@meduniwien.ac.at.
[Ti] Título:Keratins K2 and K10 are essential for the epidermal integrity of plantar skin.
[So] Source:J Dermatol Sci;81(1):10-6, 2016 Jan.
[Is] ISSN:1873-569X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: K1 and K2 are the main type II keratins in the suprabasal epidermis where each of them heterodimerizes with the type I keratin K10 to form intermediate filaments. In regions of the ears, tail, and soles of the mouse, only K2 is co-expressed with K10, suggesting that these keratins suffice to form a mechanically resilient cytoskeleton. OBJECTIVE: To determine the effects of the suppression of both main keratins, K2 and K10, in the suprabasal plantar epidermis of the mouse. METHODS: Krt2(-/-) Krt10(-/-) mice were generated by crossing Krt2(-/-) and Krt10(-/-) mice. Epidermal morphology of soles of hind-paws was examined macroscopically and histologically. Immunofluorescence analysis and quantitative PCR analysis were performed to analyze the expression of keratins in sole skin of wildtype and Krt2(-/-) Krt10(-/-) mice. Highly abundant proteins of the sole stratum corneum were determined by electrophoretic and chromatographic separation and subsequent mass spectrometry. RESULTS: K2 and K10 are the most prominent suprabasal keratins in normal mouse soles with the exception of the footpads where K1, K9 and K10 predominate. Mice lacking both K2 and K10 were viable and developed epidermal acanthosis and hyperkeratosis in inter-footpad epidermis of the soles. The expression of keratins K1, K9 and K16 was massively increased at the RNA and protein levels in the soles of Krt2(-/-) Krt10(-/-) mice. CONCLUSIONS: This study demonstrates that the loss of the main cytoskeletal components of plantar epidermis, i.e. K2 and K10, can be only partly compensated by the upregulation of other keratins. The thickening of the epidermis in the soles of Krt2(-/-) Krt10(-/-) mice may serve as a model for pathomechanistic aspects of palmoplantar keratoderma.
[Mh] Termos MeSH primário: Epiderme/fisiologia
Queratina-10/fisiologia
Queratina-2/fisiologia
[Mh] Termos MeSH secundário: Animais
Fenômenos Biomecânicos
Modelos Animais de Doenças
Epiderme/anatomia & histologia
Extremidades
Seres Humanos
Queratina-1/genética
Queratina-1/metabolismo
Queratina-10/genética
Queratina-16/genética
Queratina-16/metabolismo
Queratina-2/deficiência
Queratina-2/genética
Queratina-9/genética
Queratina-9/metabolismo
Ceratodermia Palmar e Plantar/genética
Ceratodermia Palmar e Plantar/metabolismo
Ceratodermia Palmar e Plantar/patologia
Ceratose/genética
Ceratose/metabolismo
Ceratose/patologia
Camundongos
Camundongos Endogâmicos BALB C
Camundongos Endogâmicos C57BL
Camundongos Knockout
Fenótipo
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Regulação para Cima
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Keratin-1); 0 (Keratin-16); 0 (Keratin-2); 0 (Keratin-9); 0 (Krt1-10 protein, mouse); 0 (Krt1-9 protein, mouse); 0 (RNA, Messenger); 147785-83-9 (Keratin-10)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151126
[St] Status:MEDLINE


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[PMID]:26037370
[Au] Autor:Xia R; Yang L; Chen D
[Ad] Endereço:Department of Dermatology of Wuxi No 2 People's Hospital, Wuxi, Jiangsu 214002, P.R.China. yanglijia726@163.com.
[Ti] Título:[25 cases with diffuse non-epidermolysis palmoplantar keratoderma from a family].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;32(3):446, 2015 Jun.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Mh] Termos MeSH primário: Ceratodermia Palmar e Plantar/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Queratina-1/genética
Queratina-9/genética
Masculino
Meia-Idade
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (KRT1 protein, human); 0 (KRT9 protein, human); 0 (Keratin-1); 0 (Keratin-9)
[Em] Mês de entrada:1508
[Cu] Atualização por classe:150603
[Lr] Data última revisão:
150603
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150604
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2015.03.039


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[PMID]:25300246
[Au] Autor:Biedermann T; Böttcher-Haberzeth S; Klar AS; Widmer DS; Pontiggia L; Weber AD; Weber DM; Schiestl C; Meuli M; Reichmann E
[Ad] Endereço:1 Tissue Biology Research Unit, University Children's Hospital Zurich , Zurich, Switzerland .
[Ti] Título:The influence of stromal cells on the pigmentation of tissue-engineered dermo-epidermal skin grafts.
[So] Source:Tissue Eng Part A;21(5-6):960-9, 2015 Mar.
[Is] ISSN:1937-335X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:It has been shown in vitro that melanocyte proliferation and function in palmoplantar skin is regulated by mesenchymal factors derived from fibroblasts. In this study, we investigated in vivo the influence of mesenchymal-epithelial interactions in human tissue-engineered skin substitutes reconstructed from palmar- and nonpalmoplantar-derived fibroblasts. Tissue-engineered dermo-epidermal analogs based on collagen type I hydrogels were populated with either human palmar or nonpalmoplantar fibroblasts and seeded with human nonpalmoplantar-derived melanocytes and keratinocytes. These skin substitutes were transplanted onto full-thickness skin wounds of immunoincompetent rats. Four weeks after transplantation the development of skin color was measured and grafts were excised and analyzed with regard to epidermal characteristics, in particular melanocyte number and function. Skin substitutes containing palmar-derived fibroblasts in comparison to nonpalmoplantar-derived fibroblasts showed (a) a significantly lighter pigmentation; (b) a reduced amount of epidermal melanin granules; and (c) a distinct melanosome expression. However, the number of melanocytes in the basal layer remained similar in both transplantation groups. These findings demonstrate that human palmar fibroblasts regulate the function of melanocytes in human pigmented dermo-epidermal skin substitutes after transplantation, whereas the number of melanocytes remains constant. This underscores the influence of site-specific stromal cells and their importance when constructing skin substitutes for clinical application.
[Mh] Termos MeSH primário: Derme/transplante
Epiderme/transplante
Pigmentação
Transplante de Pele
Engenharia Tecidual/métodos
[Mh] Termos MeSH secundário: Adolescente
Animais
Diferenciação Celular
Criança
Pré-Escolar
Derme/citologia
Feminino
Fibroblastos/citologia
Seres Humanos
Lactente
Queratina-9/metabolismo
Masculino
Melanossomas/metabolismo
Ratos Nus
Pele Artificial
Células Estromais/citologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Keratin-9)
[Em] Mês de entrada:1512
[Cu] Atualização por classe:160301
[Lr] Data última revisão:
160301
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141011
[St] Status:MEDLINE
[do] DOI:10.1089/ten.TEA.2014.0327


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[PMID]:25299193
[Au] Autor:Guo Y; Shi M; Tan ZP; Shi XL
[Ad] Endereço:Department of Internal Medicine, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province, China.
[Ti] Título:Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.
[So] Source:Genet Mol Res;13(4):8089-93, 2014 Oct 07.
[Is] ISSN:1676-5680
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin. The Keratin 9 (KRT9) and Keratin 1 genes are responsible for EPPK. Several previous studies have focused on the genetic basis of EPPK; however, genetic anticipation has not yet been reported. We described a four-generation family with EPPK and identified a p.R163W mutation of KRT9. We observed a decrease in the age of onset in three consecutive generations in the family of the proband, indicating possible genetic anticipation in this familial EPPK. Further studies are needed to elucidate the mechanisms of anticipation in EPPK.
[Mh] Termos MeSH primário: Antecipação Genética
Queratina-9/genética
Ceratodermia Palmar e Plantar Epidermolítica/genética
Mutação
[Mh] Termos MeSH secundário: Idade de Início
Substituição de Aminoácidos
Códon
Análise Mutacional de DNA
Feminino
Genótipo
Seres Humanos
Ceratodermia Palmar e Plantar Epidermolítica/diagnóstico
Masculino
Linhagem
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Codon); 0 (Keratin-9)
[Em] Mês de entrada:1506
[Cu] Atualização por classe:150731
[Lr] Data última revisão:
150731
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141010
[St] Status:MEDLINE
[do] DOI:10.4238/2014.October.7.3


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[PMID]:24908288
[Au] Autor:Wang X; Xu HR; Li T; Qu L; Zhao ZD; Zhang ZY
[Ad] Endereço:College of Animal Science and Technology, Northwest A&F University, Yangling, 712100, Shaanxi, China.
[Ti] Título:Expression analysis of KAP9.2 and Hoxc13 genes during different cashmere growth stages by qRT-PCR method.
[So] Source:Mol Biol Rep;41(9):5665-8, 2014 Sep.
[Is] ISSN:1573-4978
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Keratin-associated protein 9.2 (KAP9.2) and Homeobox C13 (Hoxc13) genes were chosen to study because of their biological functions involving hair formation. KAP9.2 gene belongs to the ultra high sulfur KAPs, which is important for hair formation and may have association with cashmere. Hoxc13 takes part in the formation of cashmere keratin and maintaining the normal structure of follicle. It has been reported that Hoxc13 gene exists binding site of KP and KAP genes at its promoter regions in mouse. So the expression of KAP9.2 and Hoxc13 genes was detected at anagen stage vs telogen stage by qRT-PCR. The data showed that KAP9.2 and Hoxc13 gene had similar expression trend at different stages, which indicated that there was interaction between them. KAP9.2 and Hoxc13 gene had lower expression level in anagen than that of in telogen of cashmere growth. In anagen, KAP9.2 and Hoxc13 expressed lower in high cashmere yield individuals than that of in low cashmere yield ones. In telogen, the result was reverse. The study would provide the evidence of involvement of KAP9.2 and Hoxc13 in hair periodic growth.
[Mh] Termos MeSH primário: Cabras/genética
Folículo Piloso/crescimento & desenvolvimento
Proteínas de Homeodomínio/metabolismo
Queratinas/metabolismo
[Mh] Termos MeSH secundário: Animais
Sítios de Ligação
Feminino
Proteínas de Homeodomínio/genética
Queratina-9/genética
Queratina-9/metabolismo
Queratinas/genética
Morfogênese
Reação em Cadeia da Polimerase Via Transcriptase Reversa
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (Keratin-9); 68238-35-7 (Keratins)
[Em] Mês de entrada:1512
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140609
[St] Status:MEDLINE
[do] DOI:10.1007/s11033-014-3435-8



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