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1.
Microbes Environ ; 34(1): 104-107, 2019 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-30773505

RESUMO

Alcanivorax borkumensis is a ubiquitous marine bacterium that utilizes alkanes as a sole carbon source. We observed two phenotypes in the A. borkumensis SK2 type strain: rough (R) and smooth (S) types. The S type exhibited lower motility and higher polysaccharide production than the R type. Full genome sequencing revealed a mutation in the S type involved in cyclic-di-GMP production. The present results suggest that higher c-di-GMP levels in the S type control the biofilm forming behavior of this bacterium in a manner commensurate with other Gram-negative bacteria.


Assuntos
Alcanivoraceae/fisiologia , Proteínas de Bactérias/genética , Biofilmes/crescimento & desenvolvimento , GMP Cíclico/análogos & derivados , Alcanivoraceae/genética , Alcanivoraceae/metabolismo , Alcanos/metabolismo , Proteínas de Bactérias/metabolismo , GMP Cíclico/metabolismo , Regulação Bacteriana da Expressão Gênica , Genoma Bacteriano/genética , Fenótipo , Mutação Puntual , Polissacarídeos Bacterianos/biossíntese
2.
Plant Methods ; 14: 10, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29434651

RESUMO

Background: Genome-wide characterization of tissue- or cell-specific gene expression is a recurrent bottleneck in biology. We have developed a sensitive approach based on ultra-low RNA sequencing coupled to laser assisted microdissection for analyzing different tissues of the small Arabidopsis embryo. Methods and results: We first characterized the number of genes detected according to the quantity of tissue yield and total RNA extracted. Our results revealed that as low as 0.02 mm2 of tissue and 50 pg of total RNA can be used without compromising the number of genes detected. The optimised protocol was used to compare the epidermal versus mesophyll cell transcriptomes of cotyledons at the torpedo-shaped stage of embryo development. The approach was validated by the recovery of well-known epidermal genes such AtML1 or AtPDF2 and genes involved in flavonoid and cuticular waxes pathways. Moreover, the interest and sensitivity of this approach were highlighted by the characterization of several transcription factors preferentially expressed in epidermal cells. Conclusion: This technical advance unlocks some current limitations of transcriptomic analyses and allows to investigate further and efficiently new biological questions for which only a very small amounts of cells need to be isolated. For instance, it paves the way to increasing the spatial accuracy of regulatory networks in developing small embryo of Arabidopsis or other plant tissues.

3.
PLoS One ; 12(9): e0184820, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28961242

RESUMO

In the plant cell wall, boron links two pectic domain rhamnogalacturonan II (RG-II) chains together to form a dimer and thus contributes to the reinforcement of cell adhesion. We studied the mur1-1 mutant of Arabidopsis thaliana which has lost the ability to form GDP-fucose in the shoots and show that the extent of RG-II cross-linking is reduced in the lignified stem of this mutant. Surprisingly, MUR1 mutation induced an enrichment of resistant interunit bonds in lignin and triggered the overexpression of many genes involved in lignified tissue formation and in jasmonic acid signaling. The defect in GDP-fucose synthesis induced a loss of cell adhesion at the interface between stele and cortex, as well as between interfascicular fibers. This led to the formation of regenerative xylem, where tissue detachment occurred, and underlined a loss of resistance to mechanical forces. Similar observations were also made on bor1-3 mutant stems which are altered in boron xylem loading, leading us to suggest that diminished RG-II dimerization is responsible for regenerative xylem formation.


Assuntos
Proteínas de Arabidopsis/genética , Arabidopsis/metabolismo , Guanosina Difosfato Fucose/metabolismo , Lignina/metabolismo , Mutação , Pectinas/metabolismo , Arabidopsis/genética , Pectinas/química
4.
Neuroscience ; 336: 20-29, 2016 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-27586054

RESUMO

In the normal cerebellum, Purkinje cells (PCs) are generated in a zone along the ventricular surface, migrate radially, and align to form a single-cell layer. However, in mice lacking the secreted protein Reelin or its downstream adaptor protein Dab1, the majority of PCs are located ectopically in the deep cerebellar mass. Nonetheless, how Reelin regulates migration and alignment of PCs remains incompletely understood. Reelin has a highly-conserved C-terminal region (CTR), which is required for its full activity. Here, we report an abnormality of the cerebellum in Reelin CTR-lacking knock-in (ΔC-KI) mice. In the ΔC-KI mice, cerebellar formation was largely normal, but some PCs in selected regions were found to be located ectopically and to frequently form clusters. Ectopic PCs contained a higher amount of Dab1 protein and functional Reelin receptors, including mainly very low-density lipoprotein receptor than correctly-aligned PCs. Decreasing Dab1 gene dosage exacerbated mislocalization of PCs and the cerebellar structure in Reelin ΔC-KI mice. These results indicate that ectopic PCs in ΔC-KI mice failed to receive sufficient Reelin signaling en route to their final destinations. Further, we also found that Reelin protein with intact CTR binds preferentially to PCs. Thus, it was suggested that the extent or quality of Reelin/Dab1 signaling that PCs require for correct positioning vary and that Reelin with intact CTR is required for that of a certain subset of PCs.


Assuntos
Moléculas de Adesão Celular Neuronais/metabolismo , Cerebelo/metabolismo , Proteínas da Matriz Extracelular/metabolismo , Proteínas do Tecido Nervoso/metabolismo , Células de Purkinje/citologia , Receptores de Superfície Celular/metabolismo , Serina Endopeptidases/metabolismo , Animais , Cerebelo/crescimento & desenvolvimento , Camundongos Transgênicos , Fosforilação , Receptores de LDL/metabolismo
5.
Sci Rep ; 6: 28636, 2016 06 27.
Artigo em Inglês | MEDLINE | ID: mdl-27346785

RESUMO

The secreted glycoprotein Reelin is believed to play critical roles in the pathogenesis of several neuropsychiatric disorders. The highly basic C-terminal region (CTR) of Reelin is necessary for efficient activation of its downstream signaling, and the brain structure of knock-in mice that lack the CTR (ΔC-KI mice) is impaired. Here, we performed a comprehensive behavioral test battery on ΔC-KI mice, in order to evaluate the effects of partial loss-of-function of Reelin on brain functions. The ΔC-KI mice were hyperactive and exhibited reduced anxiety-like and social behaviors. The working memory in ΔC-KI mice was impaired in a T-maze test. There was little difference in spatial reference memory, depression-like behavior, prepulse inhibition, or fear memory between ΔC-KI and wild-type mice. These results suggest that CTR-dependent Reelin functions are required for some specific normal brain functions and that ΔC-KI mice recapitulate some aspects of neuropsychiatric disorders, such as schizophrenia, bipolar disorder, and autism spectrum disorder.


Assuntos
Comportamento Animal , Encéfalo , Moléculas de Adesão Celular Neuronais , Proteínas da Matriz Extracelular , Transtornos Mentais , Proteínas do Tecido Nervoso , Serina Endopeptidases , Comportamento Social , Animais , Encéfalo/metabolismo , Encéfalo/patologia , Encéfalo/fisiopatologia , Moléculas de Adesão Celular Neuronais/genética , Moléculas de Adesão Celular Neuronais/metabolismo , Proteínas da Matriz Extracelular/genética , Proteínas da Matriz Extracelular/metabolismo , Transtornos Mentais/genética , Transtornos Mentais/metabolismo , Transtornos Mentais/fisiopatologia , Camundongos , Camundongos Mutantes , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Domínios Proteicos , Serina Endopeptidases/genética , Serina Endopeptidases/metabolismo
6.
Cytogenet Genome Res ; 143(1-3): 28-50, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24992956

RESUMO

The interphase cell nucleus is extraordinarily complex, ordered, and dynamic. In the last decade, remarkable progress has been made in deciphering the functional organisation of the cell nucleus, and intricate relationships between genome functions (transcription, DNA repair, or replication) and various nuclear compartments have been revealed. In this review, we describe the architecture of the Arabidopsis thaliana interphase cell nucleus and discuss the dynamic nature of its organisation. We underline the need for further developments in quantitative and modelling approaches to nuclear organization.


Assuntos
Arabidopsis/genética , Núcleo Celular/genética , Cromatina/genética , Cromossomos de Plantas/genética , Interfase/genética , Animais , Humanos
10.
Int J Dermatol ; 49(9): 1031-3, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20883264

RESUMO

Sjögren-Larsson syndrome is an autosomal-recessive hereditary disorder characterized by congenital ichthyosis, mental retardation and spastic diplegia or tetraplegia. It is known that mutations in the fatty aldehyde dehydrogenase (FALDH) gene (ALDH3A2) underlie SLS. We report two Indian sisters showing typical clinical features of SLS. Direct sequencing of the entire coding region of ALDH3A2 revealed a novel homozygous mutation, c.142G>T (p.Asp48Tyr) in exon 1, in both patients. Their parents harbored the mutation heterozygously. Mutant-allele-specific amplification analysis using PCR products as a template verified the mutation in the patients. The aspartic acid residue at the mutation site is located in the C-terminal portion of the second a-helix strand, a2, of N-terminal four helices of FALDH and the FALDH amino-acid sequence alignment shows that this aspartic acid residue is conserved among several diverse species. Until now, a number of mutations in ALDH3A2 have been shown to be responsible for SLS in Europe, the Middle East, Africa, and North and South America. However, in Asian populations, ALDH3A2 mutations have been identified only in Japanese SLS patients. Here we report an ALDH3A2 mutation for the first time in SLS patients in the Asian country other than Japan. The present results suggest that ALDH3A2 is a gene responsible for SLS in Asian populations. We hope ALDH3A2 mutation search will be globally available including many Asian countries in the future.


Assuntos
Aldeído Oxirredutases/genética , Mutação de Sentido Incorreto , Síndrome de Sjogren-Larsson/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Bovinos , Pré-Escolar , Éxons , Feminino , Humanos , Lactente , Camundongos , Dados de Sequência Molecular , Ratos , Alinhamento de Sequência , Síndrome de Sjogren-Larsson/diagnóstico
11.
Am J Pathol ; 177(1): 106-18, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20489143

RESUMO

Harlequin ichthyosis (HI) is caused by loss-of-function mutations in the keratinocyte lipid transporter ABCA12. The patients often die in the first 1 or 2 weeks of life, although HI survivors' phenotypes improve within several weeks after birth. In order to clarify the mechanisms of phenotypic recovery, we studied grafted skin and keratinocytes from Abca12-disrupted (Abca12(-/-)) mice showing abnormal lipid transport. Abca12(-/-) neonatal epidermis showed significantly reduced total ceramide amounts and aberrant ceramide composition. Immunofluorescence and immunoblotting of Abca12(-/-) neonatal epidermis revealed defective profilaggrin/filaggrin conversion and reduced protein expression of the differentiation-specific molecules, loricrin, kallikrein 5, and transglutaminase 1, although their mRNA expression was up-regulated. In contrast, Abca12(-/-) skin grafts kept in a dry environment exhibited dramatic improvements in all these abnormalities. Increased transepidermal water loss, a parameter representing barrier defect, was remarkably decreased in grafted Abca12(-/-) skin. Ten-passage sub-cultured Abca12(-/-) keratinocytes showed restoration of intact ceramide distribution, differentiation-specific protein expression and profilaggrin/filaggrin conversion, which were defective in primary-cultures. Using cDNA microarray analysis, lipid transporters including four ATP-binding cassette transporters were up-regulated after sub-culture of Abca12(-/-) keratinocytes compared with primary-culture. These results indicate that disrupted keratinocyte differentiation during the fetal development is involved in the pathomechanism of HI and, during maturation, Abca12(-/-) epidermal keratinocytes regain normal differentiation processes. This restoration may account for the skin phenotype improvement observed in HI survivors.


Assuntos
Transportadores de Cassetes de Ligação de ATP/metabolismo , Diferenciação Celular/fisiologia , Células Epidérmicas , Epiderme/crescimento & desenvolvimento , Ictiose Lamelar , Queratinócitos/fisiologia , Transportadores de Cassetes de Ligação de ATP/genética , Animais , Células Cultivadas , Ceramidas/metabolismo , Epiderme/patologia , Epiderme/transplante , Feto/anatomia & histologia , Feto/fisiologia , Humanos , Ictiose Lamelar/genética , Ictiose Lamelar/patologia , Ictiose Lamelar/fisiopatologia , Proteínas de Filamentos Intermediários/metabolismo , Queratinócitos/citologia , Metabolismo dos Lipídeos/fisiologia , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Camundongos SCID , Análise de Sequência com Séries de Oligonucleotídeos
12.
Am J Pathol ; 176(4): 1592-9, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20167857

RESUMO

Lamellar ichthyosis (LI) is a genetically heterogeneous, severe genodermatosis showing widespread hyperkeratosis of the skin. Transglutaminase 1 (TGase1) deficiency by TGase1 gene (TGM1) mutations is the most prevalent cause of LI. Screening of TGase1 deficiency in skin is essential to facilitate the molecular diagnosis of LI. However, cadaverine, the most widely used substrate for TGase activity assay, is not isozyme specific. Recently, a human TGase1-specific highly preferred substrate peptide K5 (pepK5) was generated. To evaluate its potential as a diagnostic tool for LI, we performed pepK5 labeling of TGase1 activity in normal human and LI skin. Ca(2+)-dependent labeling of FITC-pepK5 was clearly seen in the upper spinous and granular layers of normal human skin where it precisely overlapped with TGase1 immunostaining. Both specificity and sensitivity of FITC-pepK5 labeling for TGase1 activity were higher than those of FITC-cadaverine labeling. FITC-pepK5 labeling colocalized with involucrin and loricrin immunostaining at cornified cell envelope forming sites. FITC-pepK5 labeling was negative in LI patients carrying TGM1 truncation mutations and partially abolished in the other LI patients harboring missense mutations. The present results clearly indicate that pepK5 is a powerful tool for screening LI patient TGase1 deficiency when we make molecular diagnosis of LI.


Assuntos
Ictiose Lamelar/diagnóstico , Ictiose Lamelar/metabolismo , Mutação , Peptídeos/química , Transglutaminases/fisiologia , Biópsia , Cadaverina/química , Estudos de Casos e Controles , Análise Mutacional de DNA , Humanos , Isoenzimas/química , Microscopia de Fluorescência/métodos , Fenótipo , Pele/patologia , Especificidade por Substrato , Transglutaminases/metabolismo
13.
Am J Pathol ; 175(6): 2508-17, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19893033

RESUMO

Recessive dystrophic epidermolysis bullosa (RDEB) is a severe hereditary bullous disease caused by mutations in COL7A1, which encodes type VII collagen (COL7). Col7a1 knockout mice (COL7(m-/-)) exhibit a severe RDEB phenotype and die within a few days after birth. Toward developing novel approaches for treating patients with RDEB, we attempted to rescue COL7(m-/-) mice by introducing human COL7A1 cDNA. We first generated transgenic mice that express human COL7A1 cDNA specifically in either epidermal keratinocytes or dermal fibroblasts. We then performed transgenic rescue experiments by crossing these transgenic mice with COL7(m+/-) heterozygous mice. Surprisingly, human COL7 expressed by keratinocytes or by fibroblasts was able to rescue all of the abnormal phenotypic manifestations of the COL7(m-/-) mice, indicating that fibroblasts as well as keratinocytes are potential targets for RDEB gene therapy. Furthermore, we generated transgenic mice with a premature termination codon expressing truncated COL7 protein and performed the same rescue experiments. Notably, the COL7(m-/-) mice rescued with the human COL7A1 allele were able to survive despite demonstrating clinical manifestations very similar to those of human RDEB, indicating that we were able to generate surviving animal models of RDEB with a mutated human COL7A1 gene. This model has great potential for future research into the pathomechanisms of dystrophic epidermolysis bullosa and the development of gene therapies for patients with dystrophic epidermolysis bullosa.


Assuntos
Colágeno Tipo VII/genética , Modelos Animais de Doenças , Epidermólise Bolhosa Distrófica/genética , Fibroblastos/fisiologia , Queratinócitos/fisiologia , Animais , Western Blotting , DNA Complementar/genética , Imunofluorescência , Engenharia Genética/métodos , Humanos , Imuno-Histoquímica , Camundongos , Camundongos Transgênicos , Microscopia Imunoeletrônica , Mutação , Reação em Cadeia da Polimerase Via Transcriptase Reversa
16.
Anal Sci ; 24(12): 1643-6, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19075479

RESUMO

A useful method to separate/concentrate lanthanoids was developed based on a rapid coprecipitation technique using yttrium phosphate. Lanthanoids, which were quantitatively coprecipitated at pH 3 with yttrium phosphate, could be readily determined by inductively coupled plasma atomic emission spectrometry with indium used as an internal standard element. The detection limits ranged from 0.0003 microg (Yb, Lu) to 0.0099 microg (Er) in 100 mL of sample solutions. The proposed method was applicable to the separation/concentration of lanthanoids in NIST SRM 1515 (apple leaves).


Assuntos
Elementos da Série dos Lantanídeos/química , Elementos da Série dos Lantanídeos/isolamento & purificação , Fosfatos/química , Ítrio/química , Calibragem , Precipitação Química , Elementos da Série dos Lantanídeos/análise , Padrões de Referência , Sensibilidade e Especificidade , Fatores de Tempo
17.
Am J Pathol ; 173(5): 1349-60, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18832586

RESUMO

CGI-58 is the causative molecule underlying Dorfman-Chanarin syndrome, a neutral lipid storage disease exhibiting apparent clinical features of ichthyosis. CGI-58, associated with triacylglycerol hydrolysis, has an alpha/beta-hydrolase fold and is also known as the alpha/beta-hydrolase domain-containing protein 5. The purpose of this study was to elucidate the function of CGI-58 and the pathogenic mechanisms of ichthyosis in Dorfman-Chanarin syndrome. Using an anti-CGI-58 antibody, we found CGI-58 to be expressed in the upper epidermis, predominantly in the granular layer cells, as well as in neurons and hepatocytes. Immunoelectron microscopy revealed that CGI-58 was also localized to the lamellar granules (LGs), which are lipid transport and secretion granules found in keratinocytes. CGI-58 expression was markedly reduced in the epidermis of patients with harlequin ichthyosis, demonstrating defective LG formation. In cultured keratinocytes, CGI-58 expression was mildly up-regulated under high Ca(2+) conditions and markedly up-regulated in three-dimensional, organotypic cultures. In the developing human epidermis, CGI-58 immunostaining was observed at an estimated gestational age of 49 days, and CGI-58 mRNA expression was up-regulated concomitantly with both epidermal stratification and keratinocyte differentiation. CGI-58 knockdown reduced expression of keratinocyte differentiation/keratinization markers in cultured human keratinocytes. Our results indicate that CGI-58 is expressed and packaged into LGs during keratinization and likely plays crucial role(s) in keratinocyte differentiation and LG lipid metabolism, contributing to skin lipid barrier formation.


Assuntos
Diferenciação Celular , Grânulos Citoplasmáticos/enzimologia , Esterases/metabolismo , Queratinócitos/citologia , Queratinócitos/enzimologia , Lipase/metabolismo , Metabolismo dos Lipídeos , 1-Acilglicerol-3-Fosfato O-Aciltransferase , Animais , Anticorpos/farmacologia , Transporte Biológico , Encéfalo/citologia , Encéfalo/enzimologia , Células Cultivadas , Grânulos Citoplasmáticos/patologia , Epiderme/embriologia , Epiderme/enzimologia , Epiderme/patologia , Epiderme/ultraestrutura , Humanos , Hidrolases/metabolismo , Ictiose Lamelar/enzimologia , Ictiose Lamelar/patologia , Lipase/deficiência , Fígado/citologia , Fígado/enzimologia , Camundongos , Camundongos Endogâmicos C57BL , Regulação para Cima , Rede trans-Golgi/enzimologia
18.
Hum Mol Genet ; 17(19): 3075-83, 2008 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-18632686

RESUMO

Harlequin ichthyosis (HI), which is the most severe genodermatosis, is caused by loss-of-function mutations in ABCA12, a member of the ATP-binding cassette transporter family. To investigate the pathomechanism of HI and the function of the ABCA12 protein, we generated ABCA12-deficient mice (Abca12(-/-)) by targeting Abca12. Abca12(-/-) mice closely reproduce the human HI phenotype, showing marked hyperkeratosis with eclabium and skin fissure. Lamellar granule abnormalities and defective ceramide distribution were remarkable in the epidermis. Skin permeability assay of Abca12(-/-) fetuses revealed severe skin barrier dysfunction after the initiation of keratinization. Surprisingly, the Abca12(-/-) mice also demonstrated lung alveolar collapse immediately after birth. Lamellar bodies in alveolar type II cells of the Abca12(-/-) mice lacked normal lamellar structures. The level of surfactant protein B, an essential component of alveolar surfactant, was reduced in the Abca12(-/-) mice. Fetal therapeutic trials with systemic administration of retinoid or dexamethasone, which are effective for HI and respiratory distress, respectively, to the pregnant mother mice neither improved the skin phenotype nor extended the survival period. Our HI model mice reproduce the human HI skin phenotype soon after the initiation of fetal skin keratinization and provide evidence that ABCA12 plays pivotal roles in lung and skin barrier functions.


Assuntos
Transportadores de Cassetes de Ligação de ATP/metabolismo , Modelos Animais de Doenças , Ictiose Lamelar/fisiopatologia , Alvéolos Pulmonares/fisiopatologia , Pele/fisiopatologia , Transportadores de Cassetes de Ligação de ATP/química , Transportadores de Cassetes de Ligação de ATP/genética , Corticosteroides/administração & dosagem , Animais , Células Cultivadas , Feminino , Marcação de Genes , Humanos , Ictiose Lamelar/tratamento farmacológico , Ictiose Lamelar/embriologia , Queratinócitos/metabolismo , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Gravidez , Alvéolos Pulmonares/embriologia , Retinoides/administração & dosagem , Pele/embriologia
19.
J Am Acad Dermatol ; 58(4): 653-6, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18262308

RESUMO

Harlequin ichthyosis (HI) is a severe and usually fatal congenital ichthyosis with an autosomal recessive inheritance pattern. Until the identification of ABCA12 as the causative gene, prenatal diagnosis (PND) for HI had been performed by electronmicroscopic observation of fetal skin biopsy samples. We report herein a case of DNA-based prenatal exclusion of HI. We performed PND by direct sequence analysis and restriction enzyme digestion analysis using fetal genomic DNA from amniotic fluid cells at 16 weeks' gestation. This study demonstrates the efficacy of early DNA-based exclusion of HI.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Líquido Amniótico/química , Ictiose Lamelar/diagnóstico , Diagnóstico Pré-Natal , Análise de Sequência de DNA , Sequência de Bases , Feminino , Humanos , Masculino , Dados de Sequência Molecular , Gravidez , Análise de Sequência de DNA/métodos
20.
J Invest Dermatol ; 128(7): 1648-52, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18219278

RESUMO

We have identified a previously unreported homozygous nonsense mutation p.Cys427X in the keratin 10 (K10) gene (KRT10) in a Turkish girl with recessive bullous congenital ichthyosiform erythroderma (BCIE) showing superficial blistering. p.Cys427X is located upstream of the previously reported homozygous truncation mutation within the same exon 6 causing mRNA decay. Immunohistochemical examination showed a complete absence of K10 protein in the patient's epidermis. The findings of this study suggest that K10 knockout patients show unique clinicopathological features of clinically mild BCIE with blisters occurring within the granular layer. In addition, the unaffected, heterozygous carriers of the mutation indicate that the K10 peptide from one normal allele alone is sufficient for keratin network formation.


Assuntos
Códon sem Sentido , Hiperceratose Epidermolítica/genética , Queratina-10/genética , Pré-Escolar , Feminino , Humanos , Hiperceratose Epidermolítica/patologia , Queratina-10/análise , Pele/patologia
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