Database : MEDLINE
Search on : Ectodermal and Dysplasia [Words]
References found : 3887 [refine]
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[PMID]: 29444360
[Au] Autor:Feng X; Weng C; Wei T; Sun J; Huang F; Yu P; Qi M
[Ad] Address:Department of Cell Biology and Medical Genetics, School of Medicine, Zhejiang University, Hangzhou, 310058, China.
[Ti] Title:Two EDA gene mutations in chinese patients with hypohidrotic ectodermal dysplasia.
[So] Source:J Eur Acad Dermatol Venereol;, 2018 Feb 14.
[Is] ISSN:1468-3083
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1802
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher
[do] DOI:10.1111/jdv.14874

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[PMID]: 29425758
[Au] Autor:Peacock ZS; Salcines A; Troulis MJ; Kaban LB
[Ad] Address:Assistant Professor, Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Harvard School of Dental Medicine, Boston, MA. Electronic address: zpeacock@partners.org.
[Ti] Title:Long-Term Effects of Distraction Osteogenesis of the Mandible.
[So] Source:J Oral Maxillofac Surg;, 2018 Jan 31.
[Is] ISSN:1531-5053
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: 1) To assess the fate of the permanent teeth in and adjacent to the regenerate in pediatric patients who underwent mandibular distraction osteogenesis (DO) and 2) to compare the postoperative growth of the distracted mandible with age- and gender-matched controls. PATIENTS AND METHODS: This was a retrospective cohort study of children who underwent mandibular DO during the primary or mixed dentition period and before completion of somatic growth (boys aged ≤14 years and girls aged ≤12 years) at Massachusetts General Hospital from 1996 to 2014. From the DO registry, patients were selected who had complete clinical and radiographic records and at least 1 year of follow-up. Patients with disorders of dental development (eg, ectodermal dysplasia) were excluded. Panoramic radiographs were used to assess changes in morphology, eruption, and orientation of the dentition. Standardized digital lateral cephalograms were used to assess the mandible (sella-nasion-B point, mandibular unit length, ramus height, body length) preoperatively, at the end of distraction, at 1 year after device removal, and at longest follow-up. RESULTS: A total of 118 patients of all ages in the registry underwent some form of DO during the study period. For assessment of the effects on dentition, 26 subjects, who had 36 osteotomies and distraction wounds, met the inclusion criteria. In this sample, 22 of 26 subjects (85%) had 52 adverse effects in 38 of 90 permanent teeth (42.2%) assessed. Cephalometric measurements indicated that there was net mandibular growth at longest follow-up, after a period of skeletal relapse from the end of distraction to 1 year after device removal; however, only 2 of 25 subjects (8%) regained a growth rate in the vector of DO that matched or exceeded normal age- and gender-matched controls. CONCLUSIONS: DO commonly results in adverse effects on the dentition within and adjacent to the DO gap, with only a minority resolving over time. Net growth of the mandible occurs after DO but at a slower rate and lesser magnitude than that of age- and gender-matched controls.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:Publisher

  3 / 3887 MEDLINE  
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[PMID]: 29486400
[Au] Autor:Trevisan M; Barbaro V; Riccetti S; Masi G; Barzon L; Nespeca P; Alvisi G; Di Iorio E; Palù G
[Ad] Address:Department of Molecular Medicine, University of Padova, 35121 Padua, Italy. Electronic address: marta.trevisan@unipd.it.
[Ti] Title:Generation of a transgene-free induced pluripotent stem cells line (UNIPDi002-A) from oral mucosa epithelial stem cells carrying the R304Q mutation in TP63 gene.
[So] Source:Stem Cell Res;28:149-152, 2018 Feb 16.
[Is] ISSN:1876-7753
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Transgene free UNIPDi002-A-human induced pluripotent stem cell (hiPSC) line was generated by Sendai Virus Vectors reprogramming from human oral mucosal epithelial stem cells (hOMESCs) of a patient affected by ectrodactyly-ectodermal dysplasia-clefting (EEC)-syndrome, carrying a mutation in exon 8 of the TP63 gene (R304Q). The UNIPDi002-A-hiPSC line retained the mutation of the parental R304Q-hOMESCs and displayed a normal karyotype. No residual expression of transgenes nor Sendai virus vector sequences were detected in the line at passage 8. UNIPDi002-A-hiPSC expressed a panel of pluripotency-associated markers and could form embryoid bodies expressing markers belonging to the three germ layers ectoderm, endoderm and mesoderm.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:Publisher

  4 / 3887 MEDLINE  
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[PMID]: 29482704
[Au] Autor:Wahid S; Aslam S; Minhas S
[Ad] Address:Department of Paediatrics, KRL Hospital, Islamabad.
[Ti] Title:Ellis-Van Creveld Syndrome in a Neonate.
[So] Source:J Coll Physicians Surg Pak;28(3):S44-S45, 2018 Mar.
[Is] ISSN:1681-7168
[Cp] Country of publication:Pakistan
[La] Language:eng
[Ab] Abstract:Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. It has an autosomal recessive inheritance. This is caused by mutations in 1 of 2 genes, EVC 1 or EVC 2. This syndrome has a constellation of characteristic features that include bilateral post-axial polydactyly, mainly involving the upper limbs, hypoplastic nails and teeth, congenital heart defects, and chondroectodermal dysplasia. It is mainly a disorder of Amish population where incidence of this disease is 1/5000 and its incidence in non-Amish population is 7/1000000. Our patient had all the major characteristic features consistent with Ellis-van Creveld syndrome including post-axial polydactyly, teeth and nail abnormalities, congenital heart defect and skeletal dysplasia. Until now, only five cases have been reported from this region of the world, none of them diagnosed in neonatal life and having characteristic common atrium.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Process
[do] DOI:10.29271/jcpsp.2018.03.S44

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[PMID]: 29408907
[Au] Autor:Kang KB; Karas FI; Rai R; Hallak JA; Kang JJ; de la Cruz J; Cortina MS
[Ad] Address:Illinois Eye and Ear Infirmary, Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, United States of America.
[Ti] Title:Five year outcomes of Boston type I keratoprosthesis as primary versus secondary penetrating corneal procedure in a matched case control study.
[So] Source:PLoS One;13(2):e0192381, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Despite improved retention and reduced complication rates paving the way for the current expansion of applications and surge in prevalence for the Boston type I Keratoprosthesis (KPro), the most frequent indication for its implantation today remains prior graft failure. The purpose of this study is to evaluate the long-term outcomes of primary KPro and compare to secondary implantation in a matched cohort study. This study included patients who underwent KPro implantation in a single center by two surgeons between July 2008 and October 2014. All eyes with KPro implantation as the primary procedure with a minimum follow up of 12 months were matched with eyes with same preoperative diagnoses that underwent secondary KPro implantation. Main outcomes included visual acuity and device retention. A total of 56 eyes were included with 28 eyes in each group. Mean follow up was 5.0 years for both groups. Twenty-nine percent (8) of the eyes in the primary group had a diagnosis of chemical or thermal injuries, 25% (7) aniridia, 18% (5) autoimmune disease, 4% (1) infectious keratitis/neurotrophic cornea, 7% (2) gelatinous corneal dystrophy, 7% (2) ectrodactyly ectodermal dysplasia/limbal stem cell deficiency, and 11% (3) uveitis/hypotony. Sixty-one percent (17) of the eyes in the primary group and 39% (11) in the secondary group maintained a final best-corrected visual acuity of 20/200 or better at a mean follow up of 5.0 years; the probability of maintaining best-corrected vision is 0.83 and 0.49 for primary and secondary groups at 5.0 years (p = 0.02). There is no statistically significant difference between groups in device retention (p = 0.22) or postoperative complication rates (p >0.05). This study demonstrates that Boston KPro implantation may be successful as a primary procedure in patients at high risk of failure with traditional penetrating keratoplasty. The device has a good long-term retention rate and visual outcomes are promising however a larger study is needed for more definitive results.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Data-Review
[do] DOI:10.1371/journal.pone.0192381

  6 / 3887 MEDLINE  
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[PMID]: 29477592
[Au] Autor:Trevisan M; Di Iorio E; Masi G; Riccetti S; Barzon L; Alvisi G; Caenazzo L; Barbaro V; Palù G
[Ad] Address:Department of Molecular Medicine, University of Padova, 35121 Padua, Italy. Electronic address: marta.trevisan@unipd.it.
[Ti] Title:Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene.
[So] Source:Stem Cell Res;28:141-144, 2018 Feb 16.
[Is] ISSN:1876-7753
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Oral mucosa epithelial stem cells from a patient affected by Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome carrying the R279H mutation in the TP63 gene were reprogrammed into human induced pluripotent stem cells (hiPSCs) with episomal vectors. The generated UNIPDi003-A-hPSC line retained the mutation of the parental cells and showed a normal karyotype upon long term culture. Analysis of residual transgenes expression showed that the episomal vectors were eliminated from the cell line. UNIPDi003-A-hiPSCs expressed the undifferentiated state marker alkaline phosphatase along with a panel of pluripotency markers, and formed embryoid bodies capable of expressing markers belonging to all the three germ layers.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180225
[Lr] Last revision date:180225
[St] Status:Publisher

  7 / 3887 MEDLINE  
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[PMID]: 29278420
[Au] Autor:Humbatova A; Maroofian R; Romano MT; Tafazzoli A; Behnam M; Dilaver N; Nouri N; Salehi M; Wolf S; Frank J; Kokordelis P; Betz RC
[Ad] Address:Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.
[Ti] Title:An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction.
[So] Source:Br J Dermatol;, 2017 Dec 26.
[Is] ISSN:1365-2133
[Cp] Country of publication:England
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1712
[Cu] Class update date: 180223
[Lr] Last revision date:180223
[St] Status:Publisher
[do] DOI:10.1111/bjd.16276

  8 / 3887 MEDLINE  
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[PMID]: 29432674
[Au] Autor:Zhang LY; Jin J; Luo K; Piao SG; Zheng HL; Jin JZ; Lim SW; Choi BS; Yang CW; Li C
[Ad] Address:Department of Nephrology, Yanbian University Hospital, Yanbian, China.
[Ti] Title:Shen-Kang protects against tacrolimus-induced renal injury.
[So] Source:Korean J Intern Med;, 2018 Feb 12.
[Is] ISSN:2005-6648
[Cp] Country of publication:Korea (South)
[La] Language:eng
[Ab] Abstract:Background/Aims: Evidence suggests that Shen-Kang (SK), a traditional Chinese herbal medicine, protects against various types of renal injury. In this study, we evaluated whether SK treatment confers renoprotection in a rat model of chronic tacrolimus (TAC) nephropathy. Methods: Rats were treated daily with TAC (1.5mg/kg, subcutaneously) and SK (450 mg/kg, intravenously) for 4 weeks. The effects of SK on TAC-induced renal injury were assessed by measuring renal function, urine albumin excretion, histopathology, inflammatory cell infiltration, expression of profibrotic (transforming growth factor ß1 [TGF-ß1] and TGF-ß inducible gene-h3 [ßig-h3]) and proinflammatory cytokines, oxidative stress, and apoptotic cell death. Results: Administration of SK preserved glomerular integrity (fractional mesangial area and Wilms tumor 1-positive glomeruli), attenuated tubulointerstitial fibrosis, and reduced the number of ectodermal dysplasia 1-positive cells, and this was paralleled by improved urine albumin excretion and renal dysfunction. At the molecular level, SK treatment suppressed expression of TGF-ß1/Smad2/3, ßig-h3, and proinflammatory cytokines. Oxidative stress and apoptotic cell death were significantly decreased with SK treatment, and apoptosis-related genes were regulated toward cell survival (active caspase-3 and the B-cell lymphoma-2/Bcl2-associated X [Bcl-2/Bax] ratio). Conclusions: SK protects against TAC-induced renal injury.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:Publisher
[do] DOI:10.3904/kjim.2017.276

  9 / 3887 MEDLINE  
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[PMID]: 29344666
[Au] Autor:Liu N; Niu S; Cao XR; Cheng JQ; Gao SY; Yu XJ; Wang HD; Dong CS; He XY
[Ad] Address:Alpaca Bioengineering Laboratory, College of Animal Science and Veterinary Medicine, Shanxi Agricultural University, Taigu, Shanxi 030801, P.R. China.
[Ti] Title:Let-7b regulates alpaca hair growth by downregulating ectodysplasin A.
[So] Source:Mol Med Rep;17(3):4688-4694, 2018 Mar.
[Is] ISSN:1791-3004
[Cp] Country of publication:Greece
[La] Language:eng
[Ab] Abstract:Hypohidrotic ectodermal dysplasia (HED), also known as anhidrotic ectodermal dysplasia, is characterized by the clinical manifestations of less sweat or no sweat, sparse or no hair, tooth agenesis and/or abnormal tooth morphology. The characteristics of alpaca ear hair differ from the back hair. The ectodysplasin A (EDA) signaling pathway has a regulatory effect on skin development and hair growth. The aim of the present study was to study the effects of EDA on alpaca hair growth by examining the mRNA and protein expression levels of EDA in alpaca ear and back skin by reverse transcription­quantitative polymerase chain reaction and western blot analysis, respectively. Results indicated that EDA expression was higher in the ear skin compared with the back skin. The expression levels of let­7b in the skin of healthy alpacas varies; the difference between let­7b expression levels of the ear and back have been reported to be >2­fold, suggesting a role for let­7b in the development of adult alpaca skin and hair follicles. A dual­luciferase reporter vector was constructed to verify the targeting relationship between microRNA let­7b and EDA, and the results revealed that EDA was a target gene of let­7b. Alpaca skin fibroblasts were transfected with a let­7b eukaryotic expression vector to investigate the regulatory relationship between let­7b and EDA. The expression of EDA was decreased in the transfected group; immunocytochemical results demonstrated that the EDA protein was abundantly expressed in the fibroblast cytoplasm. EDA protein expression was weaker in the transfected cells than in the untransfected cells. These results suggested that EDA may serve a role in alpaca hair growth and is probably a target gene of let­7b; let­7b downregulated EDA mRNA and protein expressions, which suggested that let­7b may regulate alpaca hair growth. These conclusions suggested that let­7b may be associated with HED.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:In-Process
[do] DOI:10.3892/mmr.2018.8442

  10 / 3887 MEDLINE  
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[PMID]: 29430627
[Au] Autor:Ahmad F; Nasir A; Thiele H; Umair M; Borck G; Ahmad W
[Ad] Address:Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
[Ti] Title:A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.
[So] Source:Ann Hum Genet;, 2018 Feb 12.
[Is] ISSN:1469-1809
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and teeth along with bilateral cutaneous syndactyly of hands and feet. In the present report, we performed a clinical and genetic characterization of a consanguineous Pakistani family with four individuals affected by EDSS1. We performed exome sequencing using DNA of one affected individual. Exome data analysis identified a novel homozygous missense variant (c.242T>C; p.(Leu81Pro)) in NECTIN4 (PVRL4). Sanger sequencing validated this variant and confirmed its cosegregation with the disease phenotype in the family members. Thus, our report adds a novel variant to the NECTIN4 mutation spectrum and contributes to the NECTIN4-related clinical characterization.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:Publisher
[do] DOI:10.1111/ahg.12244


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