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[PMID]:28453375
[Au] Autor:Swierkowska J; Gajecka M
[Ad] Endereço:a Institute of Human Genetics, Polish Academy of Sciences , Poznan , Poland.
[Ti] Título:Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye.
[So] Source:Ophthalmic Genet;38(6):501-510, 2017 Dec.
[Is] ISSN:1744-5094
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The aim was to summarize and discuss the current knowledge about genetic factors influencing the reduction of central corneal thickness (CCT) in disorders affecting the eye, such as primary open-angle glaucoma (POAG), brittle cornea syndrome (BCS), keratoconus (KTCN), Ehlers-Danlos syndrome (EDS; types I, II, and VI), osteogenesis imperfecta (OI), and myopia. MATERIALS AND METHODS: A review of the published literature by use of key databases such as PubMed was undertaken in accordance with PRISMA guidelines and experience based on own research findings was applied. RESULTS: The differences in CCT measurements among those affected with diverse disorders and healthy individuals were evaluated. Then we considered the influence of genetic factors on CCT reduction. Disorders were compared based on phenotypes and sequence variants found in patients. CONCLUSIONS: Specific sequence variants in COL8A2, PRDM5 and ZNF469, COL5A1 and ZNF469, and COL5A1 and COL5A2 could probably contribute to a CCT reduction in POAG, BCS, KTCN, and EDS, respectively. Similar sequence variants and phenotypes were identified and assessed in more than one disease.
[Mh] Termos MeSH primário: Córnea/patologia
Oftalmopatias/genética
Predisposição Genética para Doença
[Mh] Termos MeSH secundário: Síndrome de Ehlers-Danlos/genética
Anormalidades do Olho/genética
Proteínas do Olho/genética
Estudos de Associação Genética
Variação Genética
Glaucoma de Ângulo Aberto/genética
Seres Humanos
Instabilidade Articular/congênito
Instabilidade Articular/genética
Ceratocone/genética
Miopia/genética
Tamanho do Órgão
Osteogênese Imperfeita/genética
Anormalidades da Pele/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Eye Proteins)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171201
[Lr] Data última revisão:
171201
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1080/13816810.2017.1313993


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[PMID]:28224805
[Au] Autor:Lisková P; Dudáková L; Diblík P
[Ti] Título:[Blepharophimosis-ptosis-epicanthus inversus syndrome].
[Ti] Título:Syndrom blefarofimóza-ptóza-inverzní epikantus..
[So] Source:Cesk Slov Oftalmol;72(5):187-190, 2016.
[Is] ISSN:1211-9059
[Cp] País de publicação:Czech Republic
[La] Idioma:cze
[Ab] Resumo:PURPOSE: To report the ocular phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: Ophthalmological examination of a 36 year-old proband and detailed family history evaluation, including assessment of available facial photographs of affected relatives, was performed. RESULTS: There were four affected males and one female in three generations. The proband underwent two surgical eyelid procedures in childhood. Upon our examination, he had symmetrical ptosis with shorter eye lids, and incomplete medial canthal closure. The skin in the inner canthi was scarred, and the medial lower lids slightly everted, leading to malapposition of lacrimal punctae. There was no epicanthus inversus, however it was impossible to determine the status prior to the eyelid surgeries. The best corrected visual acuity was 0.66 and 0.33, in the right and left eye, respectively. The rest of the ocular examination was normal. There was no strabismus. Based on inspection of photographs taken prior to eyelid surgeries, the typical signs of BPES were also present in a son and a nephew of the proband. Photographs of the affected brother were not available, but family history indicated that he had BPES and underwent in his childhood two eye lid surgeries. Atypical ocular phenotype of the probands mother has been published previously. CONCLUSIONS: Ophthalmologists need to be aware about the phenotype of BPES, with the potential for visual impairment, and the need for personalized management in the affected families.Key words: blepharophimosis-ptosis-epicanthus inversus, phenotype, FOXL2.
[Mh] Termos MeSH primário: Blefarofimose/genética
Anormalidades da Pele/genética
Anormalidades Urogenitais/genética
[Mh] Termos MeSH secundário: Adulto
Blefarofimose/diagnóstico
Blefarofimose/cirurgia
Blefaroplastia
Pálpebras/cirurgia
Feminino
Seres Humanos
Masculino
Linhagem
Fenótipo
Anormalidades da Pele/diagnóstico
Anormalidades da Pele/cirurgia
Síndrome
Anormalidades Urogenitais/diagnóstico
Anormalidades Urogenitais/cirurgia
Transtornos da Visão/diagnóstico
Transtornos da Visão/genética
Transtornos da Visão/cirurgia
Acuidade Visual/fisiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170223
[St] Status:MEDLINE


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[PMID]:29023082
[Au] Autor:Tidman AS
[Ti] Título:Be vigilant for skin manifestations of inherited cancer syndromes.
[So] Source:Practitioner;261(1800):23-7, 2017 01.
[Is] ISSN:0032-6518
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:More than 200 hereditary cancer susceptibility syndromes have been described, and it is thought that they account for 5-10% of all cancers. Many have dermatological manifestations (usually lesions, occasionally rashes) which frequently precede other systemic pathology. Dermatological signs are usually non-specific and often trivial in appearance, making their significance easy to overlook and a clinical diagnosis challenging. Histological examination is often required to differentiate lesions. They are usually benign and pathologically unrelated to the primary tumours, with the exception of the atypical moles of the dysplastic naevus syndrome, and may present simply as a cosmetic problem for the patient. However, a number of cancer syndromes exhibit an increased risk of developing malignant skin lesions. For instance, Gorlin syndrome (nevoid basal cell carcinoma syndrome) which typically results in the development of multiple basal cell carcinomas, within the first few decades of life. The majority of cancer syndromes with skin signs are inherited in an autosomal dominant pattern demonstrating complete penetrance before the age of 70. Once a cancer syndrome has been diagnosed, the cornerstone of management is frequent surveillance for the early detection and treatment of malignancy. Genetic testing and counselling should be offered to family members.
[Mh] Termos MeSH primário: Síndromes Neoplásicas Hereditárias/diagnóstico
Síndromes Neoplásicas Hereditárias/genética
Anormalidades da Pele/diagnóstico
Anormalidades da Pele/genética
[Mh] Termos MeSH secundário: Fatores Etários
Síndrome do Nevo Basocelular/genética
Feminino
Predisposição Genética para Doença
Seres Humanos
Masculino
Síndromes Neoplásicas Hereditárias/complicações
Cistos Odontogênicos/genética
Fatores de Risco
Pele/patologia
Anormalidades da Pele/complicações
Neoplasias Cutâneas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171013
[St] Status:MEDLINE


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[PMID]:28819517
[Au] Autor:Nilesh K; Tewary S; Zope S; Patel J; Vande A
[Ad] Endereço:Department of Oral & Maxillofacial Surgery School of Dental Sciences, KIMSDU, Karad, Maharashtra, India.
[Ti] Título:Dental, dermatological and radiographic findings in a case of Gorlin-Goltz Syndrome: report and review.
[So] Source:Pan Afr Med J;27:96, 2017.
[Is] ISSN:1937-8688
[Cp] País de publicação:Uganda
[La] Idioma:eng
[Ab] Resumo:Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder. The disease shows multiple organ involvement with variable clinical presentation. Thus a multidisciplinary approach is required for its prompt clinical diagnosis and management of this condition. This paper highlights a case of GGS presenting in a young male patient with cranial, facial, dermatological, dental and skeletal involvement. The diagnosis of the syndrome was based on its clinical presentation, radiological features and histopathological findings. A review of the diagnostic criteria is also presented.
[Mh] Termos MeSH primário: Síndrome do Nevo Basocelular/diagnóstico
Anormalidades da Pele/etiologia
Doenças Estomatognáticas/etiologia
[Mh] Termos MeSH secundário: Síndrome do Nevo Basocelular/fisiopatologia
Síndrome do Nevo Basocelular/terapia
Seres Humanos
Comunicação Interdisciplinar
Masculino
Anormalidades da Pele/diagnóstico por imagem
Neoplasias Cutâneas/diagnóstico por imagem
Neoplasias Cutâneas/etiologia
Doenças Estomatognáticas/diagnóstico por imagem
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170904
[Lr] Data última revisão:
170904
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170819
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2017.27.96.12025


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[PMID]:28734943
[Au] Autor:Park AC; Phan N; Massoudi D; Liu Z; Kernien JF; Adams SM; Davidson JM; Birk DE; Liu B; Greenspan DS
[Ad] Endereço:Department of Cell and Regenerative Biology, University of Wisconsin, Madison, Wisconsin.
[Ti] Título:Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.
[So] Source:Am J Pathol;187(10):2300-2311, 2017 Oct.
[Is] ISSN:1525-2191
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Classic Ehlers-Danlos syndrome (cEDS) is characterized by fragile, hyperextensible skin and hypermobile joints. cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which encode the α2(V) and α1(V) chains, respectively, of collagen V, and is most often caused by COL5A1 null alleles. However, COL5A2 null alleles have yet to be associated with cEDS or other human pathologies. We previously showed that mice homozygous null for the α2(V) gene Col5a2 are early embryonic lethal, whereas haploinsufficiency caused aberrancies of adult skin, but not a frank cEDS-like phenotype, as skin hyperextensibility at low strain and dermal cauliflower-contoured collagen fibril aggregates, two cEDS hallmarks, were absent. Herein, we show that ubiquitous postnatal Col5a2 knockdown results in pathognomonic dermal cauliflower-contoured collagen fibril aggregates, but absence of skin hyperextensibility, demonstrating these cEDS hallmarks to arise separately from loss of collagen V roles in control of collagen fibril growth and nucleation events, respectively. Col5a2 knockdown also led to loss of dermal white adipose tissue (WAT) and markedly decreased abdominal WAT that was characterized by miniadipocytes and increased collagen deposition, suggesting α2(V) to be important to WAT development/maintenance. More important, Col5a2 haploinsufficiency markedly increased the incidence and severity of abdominal aortic aneurysms, and caused aortic arch ruptures and dissections, indicating that α2(V) chain deficits may play roles in these pathologies in humans.
[Mh] Termos MeSH primário: Tecido Adiposo/anormalidades
Aneurisma da Aorta Torácica/genética
Colágeno Tipo V/deficiência
Colágeno/deficiência
Predisposição Genética para Doença
Anormalidades da Pele/metabolismo
Pele/patologia
[Mh] Termos MeSH secundário: Tecido Adiposo/efeitos dos fármacos
Tecido Adiposo/patologia
Animais
Aneurisma da Aorta Torácica/patologia
Colágeno/metabolismo
Colágeno Tipo V/metabolismo
Derme/patologia
Modelos Animais de Doenças
Síndrome de Ehlers-Danlos/patologia
Colágenos Fibrilares/metabolismo
Deleção de Genes
Técnicas de Silenciamento de Genes
Integrases/metabolismo
Masculino
Camundongos Endogâmicos C57BL
Camundongos Knockout
Reprodutibilidade dos Testes
Pele/efeitos dos fármacos
Pele/ultraestrutura
Anormalidades da Pele/patologia
Tamoxifeno/farmacologia
Cicatrização/efeitos dos fármacos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Col5a2 protein, mouse); 0 (Collagen Type V); 0 (Fibrillar Collagens); 094ZI81Y45 (Tamoxifen); 9007-34-5 (Collagen); EC 2.7.7.- (Cre recombinase); EC 2.7.7.- (Integrases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171004
[Lr] Data última revisão:
171004
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170724
[St] Status:MEDLINE


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[PMID]:28700664
[Au] Autor:Sundberg JP; Dadras SS; Silva KA; Kennedy VE; Garland G; Murray SA; Sundberg BA; Schofield PN; Pratt CH
[Ad] Endereço:The Jackson Laboratory, Bar Harbor, Maine, United States of America.
[Ti] Título:Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.
[So] Source:PLoS One;12(7):e0180682, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The International Knockout Mouse Consortium was formed in 2007 to inactivate ("knockout") all protein-coding genes in the mouse genome in embryonic stem cells. Production and characterization of these mice, now underway, has generated and phenotyped 3,100 strains with knockout alleles. Skin and adnexa diseases are best defined at the gross clinical level and by histopathology. Representative retired breeders had skin collected from the back, abdomen, eyelids, muzzle, ears, tail, and lower limbs including the nails. To date, 169 novel mutant lines were reviewed and of these, only one was found to have a relatively minor sebaceous gland abnormality associated with follicular dystrophy. The B6N(Cg)-Far2tm2b(KOMP)Wtsi/2J strain, had lesions affecting sebaceous glands with what appeared to be a secondary follicular dystrophy. A second line, B6N(Cg)-Ppp1r9btm1.1(KOMP)Vlcg/J, had follicular dystrophy limited to many but not all mystacial vibrissae in heterozygous but not homozygous mutant mice, suggesting that this was a nonspecific background lesion. We discuss potential reasons for the low frequency of skin and adnexal phenotypes in mice from this project in comparison to those seen in human Mendelian diseases, and suggest alternative approaches to identification of human disease-relevant models.
[Mh] Termos MeSH primário: Cabelo/anormalidades
Unhas Malformadas/genética
Anormalidades da Pele/genética
[Mh] Termos MeSH secundário: Animais
Camundongos Endogâmicos C57BL
Camundongos Knockout
Glândulas Sebáceas/patologia
Pele/patologia
Vibrissas/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180682


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[PMID]:28686126
[Au] Autor:Tamura G; Morota N; Ihara S
[Ad] Endereço:Division of Neurosurgery, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
[Ti] Título:Impact of magnetic resonance imaging and urodynamic studies on the management of sacrococcygeal dimples.
[So] Source:J Neurosurg Pediatr;20(3):289-297, 2017 Sep.
[Is] ISSN:1933-0715
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE Sacrococcygeal dimples in neonates and infants are of uncertain pathological import. Previously they were believed to be rarely associated with intraspinal anomalies. Recent studies using MRI, however, revealed that 6%-7% of pediatric cases of sacrococcygeal dimples were associated with anatomical tethered spinal cord (TSC). Because the prevalence of tethered cord syndrome is still unclear, there is no consensus among pediatric neurosurgeons on the management of children with sacrococcygeal dimples. The authors performed an analysis of MRI and urodynamic studies to validate their management strategy for pediatric cases of sacrococcygeal dimples. METHODS A total of 103 Japanese children (49 male and 54 female, median age 4 months, range 8 days-83 months) with sacrococcygeal dimples who were referred to the Division of Pediatric Neurosurgery between 2013 and 2015 were included in this study. The lumbosacral region of all the patients was investigated using MRI. Anatomical TSC was defined as a condition in which the caudal end of the conus medullaris is lower than the inferior border of the L2-3 intervertebral disc. Patients with minor spinal anomalies (e.g., anatomical TSC, filum lipoma, thickened filum, or filar cyst) underwent further urodynamic studies to ascertain the presence of neurogenic bladder (NGB). In this study, the presence of NGB without anatomical TSC but with other minor spinal anomalies was defined as "functional TSC." The prevalence of anatomical and functional TSC was investigated. The association of the following cutaneous findings with spinal anomalies was also assessed: 1) depth of the dimple, 2) deviation of the gluteal fold, and 3) other skin abnormalities (e.g., discoloration, angioma, or abnormal hair). RESULTS The children were classified into 4 groups: Group 1, patients with anatomical TSC; Group 2, patients with functional TSC; Group 3, patients without anatomical or functional TSC but with other minor spinal anomalies; and Group 4, patients with no spinal anomaly. There were 6 patients (5.8%) in Group 1, 8 patients (7.8%) in Group 2, 10 patients (9.7%) in Group 3, and 79 patients (76.7%) in Group 4. Twenty-four patients (23.3%; Groups 1, 2, and 3) showed MRI abnormalities, including filum lipoma (14 cases), filar cysts (5 cases), thickened filum (2 cases), and anatomical TSC without other spinal anomalies (3 cases). Untethering of the spinal cord was indicated for 14 patients (13.6%; Groups 1 and 2) with anatomical and functional TSCs. Preoperative NGB was found in 12 patients and improved postoperatively in 7 (58.3%). None of the associated lumbosacral skin findings predicted the presence of underlying spinal anomalies. CONCLUSIONS The prevalence of tethered cord syndrome among children with sacrococcygeal dimples was, for the first time, revealed to be higher than previously thought. MRI and supplemental urodynamic studies may be indicated for children with sacrococcygeal dimples to identify patients with symptomatic TSC.
[Mh] Termos MeSH primário: Imagem por Ressonância Magnética
Região Sacrococcígea/anormalidades
Anormalidades da Pele
Urodinâmica
[Mh] Termos MeSH secundário: Pré-Escolar
Estudos de Coortes
Feminino
Seres Humanos
Lactente
Recém-Nascido
Masculino
Defeitos do Tubo Neural/diagnóstico por imagem
Defeitos do Tubo Neural/epidemiologia
Defeitos do Tubo Neural/fisiopatologia
Defeitos do Tubo Neural/cirurgia
Prevalência
Região Sacrococcígea/diagnóstico por imagem
Região Sacrococcígea/patologia
Região Sacrococcígea/cirurgia
Anormalidades da Pele/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170708
[St] Status:MEDLINE
[do] DOI:10.3171/2017.5.PEDS16719


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[PMID]:28650975
[Au] Autor:Madon-Simon M; Grad I; Bayo P; Pérez P; Picard D
[Ad] Endereço:Département de Biologie Cellulaire, Université de Genève, Sciences III, 30 quai Ernest-Ansermet, Genève 4, Switzerland.
[Ti] Título:Defective glucocorticoid receptor signaling and keratinocyte-autonomous defects contribute to skin phenotype of mouse embryos lacking the Hsp90 co-chaperone p23.
[So] Source:PLoS One;12(6):e0180035, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:p23 is a small acidic protein with intrinsic molecular chaperone activity. It is best known as a co-chaperone of the major cytosolic molecular chaperone Hsp90. p23 binds the N-terminus of Hsp90 and stabilizes the ATP-bound and N-terminally closed Hsp90 dimer. It is in this configuration that many Hsp90 clients are most stably bound. Considering the important role of p23 in the Hsp90 cycle, it came as a surprise that it is not absolutely essential for viability in the budding yeast or for mouse development. Mice without p23 develop quite normally until birth and then all die perinatally because of immature lungs. The only other apparent phenotype of late stage embryos and newborns is a skin defect, which we have further characterized here. We found that skin differentiation is impaired, and that both apoptosis and cell proliferation are augmented in the absence of p23; the consequences are a severe thinning of the stratum corneum and reduced numbers of hair follicles. The altered differentiation, spontaneous apoptosis and proliferation are all mimicked by isolated primary keratinocytes indicating that they do require p23 functions in a cell-autonomous fashion. Since the phenotype of p23-null embryos is strikingly similar to that of embryos lacking the glucocorticoid receptor, a paradigmatic Hsp90-p23 client protein, we investigated glucocorticoid signaling. We discovered that it is impaired in vivo and for some aspects in isolated keratinocytes. Our results suggest that part of the phenotype of p23-null embryos can be explained by an impact on this particular Hsp90 client, but do not exclude that p23 by itself or in association with Hsp90 affects skin development and homeostasis through yet other pathways.
[Mh] Termos MeSH primário: Proteínas de Choque Térmico HSP90/metabolismo
Queratinócitos/metabolismo
Prostaglandina-E Sintases/deficiência
Receptores de Glucocorticoides/metabolismo
Anormalidades da Pele/metabolismo
[Mh] Termos MeSH secundário: Animais
Apoptose
Diferenciação Celular
Proliferação Celular
Feminino
Queratinócitos/patologia
Camundongos
Camundongos Knockout
Gravidez
Prostaglandina-E Sintases/genética
Prostaglandina-E Sintases/metabolismo
Receptores de Glucocorticoides/deficiência
Receptores de Glucocorticoides/genética
Transdução de Sinais
Anormalidades da Pele/embriologia
Anormalidades da Pele/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HSP90 Heat-Shock Proteins); 0 (Receptors, Glucocorticoid); EC 5.3.99.3 (Prostaglandin-E Synthases); EC 5.3.99.3 (Ptges3 protein, mouse)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170918
[Lr] Data última revisão:
170918
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170627
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180035


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[PMID]:28604951
[Au] Autor:Yang X; Li W; Du J; Yuan S; He W; Zhang Q; Zhong C; Lu G; Tan Y
[Ad] Endereço:Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, China. tanyueqiu@csu.edu.cn.
[Ti] Título:[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(3):342-346, 2017 Jun 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation. METHODS: Peripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis. RESULTS: A heterozygous c.672_701dup30 mutation was found in the probands from the two familial cases, while three heterozygous mutations (two were novel), namely c.462_468del (p.Pro156Argfs*113), c.251T to A (p.Ile84Asn) and c.988_989insG (p.Ala330Glyfs*204) were detected in the three sporadic cases. Literature review and bioinformatic analysis indicated that all these mutations are pathogenic. CONCLUSION: Identification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The novel mutations have enriched the mutation spectrum of the FOXL2 gene.
[Mh] Termos MeSH primário: Blefarofimose/genética
Fatores de Transcrição Forkhead/genética
Anormalidades da Pele/genética
Anormalidades Urogenitais/genética
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático/genética
Sequência de Bases
Blefarofimose/diagnóstico
China
Feminino
Proteína Forkhead Box L2
Estudos de Associação Genética
Seres Humanos
Masculino
Dados de Sequência Molecular
Linhagem
Anormalidades da Pele/diagnóstico
Anormalidades Urogenitais/diagnóstico
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FOXL2 protein, human); 0 (Forkhead Box Protein L2); 0 (Forkhead Transcription Factors)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.03.006


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[PMID]:28532758
[Au] Autor:Has C
[Ad] Endereço:Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany. Electronic address: cristina.has@uniklinik-freiburg.de.
[Ti] Título:The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility.
[So] Source:J Invest Dermatol;137(6):1211-1212, 2017 Jun.
[Is] ISSN:1523-1747
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A new protein, kelch-like 24, has recently been associated with a distinct subtype of epidermolysis bullosa simplex, a heterogeneous group of disorders associated with mechanical fragility of epidermal keratinocytes. All mutations involve the translation initiation codon and lead to a degradation-resistant N-terminally truncated kelch-like 24. Kelch-like 24 appears to be involved in the turnover of intermediated filaments, in particular of keratin 14, in keratinocytes.
[Mh] Termos MeSH primário: Epidermólise Bolhosa Simples/genética
Predisposição Genética para Doença
Mutação
Proteínas Repressoras/genética
Anormalidades da Pele/genética
[Mh] Termos MeSH secundário: Epidermólise Bolhosa Simples/fisiopatologia
Seres Humanos
Queratinócitos/citologia
Queratinócitos/metabolismo
Papel (Figurativo)
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Repressor Proteins); 0 (kelch-like protein 24, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170913
[Lr] Data última revisão:
170913
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170524
[St] Status:MEDLINE



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