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[PMID]: 24841239
[Au] Autor:Garuti G; Nicolini A; Grecchi B; Lusuardi M; Winck JC; Bach JR
[Ad] Address:Respiratory Rehabilitation Unit, San Sebastiano Hospital, Correggio, Reggio Emilia, Italy. Electronic address: garutigi@ausl.re.it....
[Ti] Title:Open circuit mouthpiece ventilation: Concise clinical review.
[So] Source:Rev Port Pneumol;20(4):211-8, 2014 Jul-Aug.
[Is] ISSN:0873-2159
[Cp] Country of publication:Portugal
[La] Language:eng
[Ab] Abstract:In 2013 new "mouthpiece ventilation" modes are being introduced to commercially available portable ventilators. Despite this, there is little knowledge of how to use noninvasive intermittent positive pressure ventilation (NIV) as opposed to bi-level positive airway pressure (PAP) and both have almost exclusively been reported to have been used via nasal or oro-nasal interfaces rather than via a simple mouthpiece. Non-invasive ventilation is often reported as failing because of airway secretion encumbrance, because of hypercapnia due to inadequate bi-level PAP settings, or poor interface tolerance. The latter can be caused by factors such as excessive pressure on the face from poor fit, excessive oral air leak, anxiety, claustrophobia, and patient-ventilator dys-synchrony. Thus, the interface plays a crucial role in tolerance and effectiveness. Interfaces that cover the nose and/or nose and mouth (oro-nasal) are the most commonly used but are more likely to cause skin breakdown and claustrophobia. Most associated drawbacks can be avoided by using mouthpiece NIV. Open-circuit mouthpiece NIV is being used by large populations in some centers for daytime ventilatory support and complements nocturnal NIV via "mask" interfaces for nocturnal ventilatory support. Mouthpiece NIV is also being used for sleep with the mouthpiece fixed in place by a lip-covering flange. Small 15 and 22mm angled mouthpieces and straw-type mouthpieces are the most commonly used. NIV via mouthpiece is being used as an effective alternative to ventilatory support via tracheostomy tube (TMV) and is associated with a reduced risk of pneumonias and other respiratory complications. Its use facilitates "air-stacking" to improve cough, speech, and pulmonary compliance, all of which better maintain quality of life for patients with neuromuscular diseases (NMDs) than the invasive alternatives. Considering these benefits and the new availability of mouthpiece ventilator modes, wider knowledge of this technique is now warranted. This review highlights the indications, techniques, advantages and disadvantages of mouthpiece NIV.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1407
[Js] Journal subset:IM
[St] Status:In-Process

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[PMID]: 24947966
[Au] Autor:Sato Y; Mishimagi T; Katsuki Y; Harada K
[Ad] Address:Assistant Professor, Division of Maxillofacial Surgery, Department of Maxillofacial and Neck Reconstruction, Faculty of Medical and Dental Sciences, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan. Electronic address: yu-sato.mfs@tmd.ac.jp....
[Ti] Title:Maxillary distraction osteogenesis for treatment of cleft lip and palate in a patient with X-linked agammaglobulinemia.
[So] Source:J Oral Maxillofac Surg;72(7):1396.e1-7, 2014 Jul.
[Is] ISSN:1531-5053
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:X-linked agammaglobulinemia (XLA) is a congenital immune deficiency disorder caused by abnormal antibody production. It is a rare disease with an estimated frequency of 1 in 379,000 that has X-linked recessive heredity and develops only in males. The clinical problems include bacterial infection such as otitis media, sinusitis, and bronchitis. In recent years it has become possible to diagnose XLA in the early stage and intravenous immunoglobulin replacement therapy has permitted survival to adulthood. However, there have been no reports of oral surgery in patients with XLA. Here, we describe a case in which immunoglobulin replacement therapy given pre- and postoperatively was used to control infection in oral surgery and maxillary distraction osteogenesis performed for improving occlusion and appearance of a cleft lip and palate in a patient with XLA.
[Mh] MeSH terms primary: Agammaglobulinemia/complications
Cleft Lip/surgery
Cleft Palate/surgery
Genetic Diseases, X-Linked/complications
Maxilla/surgery
Osteogenesis, Distraction/methods
[Mh] MeSH terms secundary: Adult
Cleft Lip/complications
Cleft Palate/complications
Humans
Male
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1408
[Js] Journal subset:AIM; D; IM
[Da] Date of entry for processing:140620
[St] Status:MEDLINE

  3 / 5488 MEDLINE  
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[PMID]: 24679955
[Au] Autor:Fantuzzo JJ; Rogér JM; Barroner MD; Karp JM
[Ad] Address:Department Chair, Oral and Maxollifacial Surgery, University of Rochester Medical Center School of Medicine and Dentistry, Rochester, NY....
[Ti] Title:Self-mutilation of the lower lip in a child with dystonia secondary to megalencephalic leukoencephalopathy treated with botox injections: a case report.
[So] Source:J Oral Maxillofac Surg;72(7):1327.e1-4, 2014 Jul.
[Is] ISSN:1531-5053
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: We report the case of a 10-year old boy who had been diagnosed with megalencephalic leukoencephalopathy several years earlier. Because of the patient's oral dystonic activity, a traumatic, nonhealing, chronic ulcer had developed on his lower lip. MATERIALS AND METHODS: Botox-A was injected into the mentalis, orbicularis oris, and bilateral masseter muscles. RESULTS: The patient showed decreased dystonia and gradual complete healing of the traumatic ulcer of the lower lip. CONCLUSIONS: The treatment of patients with self-mutilation to the lips will often be difficult. Traditionally, patients have been treated with various medications, oral appliances, and even tooth extraction. The results of the present case report suggest that Botox should be considered as a possible first-line strategy, along with oral appliances.
[Mh] MeSH terms primary: Botulinum Toxins, Type A/therapeutic use
Dystonia/drug therapy
Leukoencephalopathies/complications
Lip/injuries
Macrocephaly/complications
Self Mutilation
[Mh] MeSH terms secundary: Child
Dystonia/etiology
Humans
Male
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (onabotulinumtoxinA); EC 3.4.24.69 (Botulinum Toxins, Type A)
[Em] Entry month:1408
[Js] Journal subset:AIM; D; IM
[Da] Date of entry for processing:140620
[St] Status:MEDLINE

  4 / 5488 MEDLINE  
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[PMID]: 24345215
[Au] Autor:Zhang Y; Guo F; Ni Y; Zhao R
[Ti] Title:LPS-induced inflammation in the chicken is associated with CCAAT/enhancer binding protein beta-mediated fat mass and obesity associated gene down-regulation in the liver but not hypothalamus.
[So] Source:BMC Vet Res;9:257, 2013.
[Is] ISSN:1746-6148
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: The fat mass and obesity associated gene (FTO) is widely investigated in humans regarding its important roles in obesity and type 2 diabetes. Studies in mammals demonstrate that FTO is also associated with inflammation markers. However, the association of FTO with inflammation in chickens remains unclear. In this study, male chickens on day 28 posthatching were injected intraperitoneally with lipopolysaccharide (LPS) or saline to investigate whether the FTO gene is involved in LPS-induced inflammation. RESULTS: We detected significant down-regulation of FTO mRNA in the liver (P < 0.01), but not in the hypothalamus, 2 and 24 h after LPS challenge. Toll-like receptor (TLR) 2 (P < 0.01) and TLR4 (P < 0.01) followed the same pattern as FTO, being suppressed significantly in liver but not in hypothalamus. IL-1ß was dramatically up-regulated (P < 0.01) in both liver and hypothalamus 2 h after LPS challenge, while activation of IL-6 was observed in the liver (P < 0.01), but not in hypothalamus. The 5'-flanking sequence of the chicken FTO gene contains nine predicted binding sites for CCAAT/enhancer binding protein beta (C/EBP beta) and one for signal transducer and activator of transcription 3 (STAT3). Significant elevation of C/EBP beta was detected in the liver (P < 0.01), but not in the hypothalamus, 2 h after LPS challenge. Lipopolysaccharide challenge increased the C/EBP beta binding to FTO promoter in the liver (P < 0.01 for fragment 1, P < 0.05 for fragment 2), although the protein content of C/EBP beta was not altered. Moreover, injection of LPS resulted in enhanced phosphorylation of liver STAT3, a downstream transcription factor in IL-6 signaling. Although phosphorylated STAT3 was not detected to directly bind to FTO promoter, it was found to interact with C/EBP beta. CONCLUSION: Our results reveal that FTO expression in liver, but not in hypothalamus, is affected by the i.p. injection of LPS, which may be mediated through tissue-specific FTO transcriptional regulation by C/EBP beta and STAT3 interaction.
[Mh] MeSH terms primary: CCAAT-Enhancer-Binding Protein-beta/metabolism
Hypothalamus/metabolism
Inflammation/veterinary
Lipopolysaccharides/pharmacology
Liver/metabolism
Poultry Diseases/physiopathology
[Mh] MeSH terms secundary: Animals
Blotting, Western/veterinary
CCAAT-Enhancer-Binding Protein-beta/genetics
CCAAT-Enhancer-Binding Protein-beta/physiology
Chickens
Down-Regulation/drug effects
Gene Expression Regulation/drug effects
Gene Expression Regulation/physiology
Hypothalamus/physiopathology
Inflammation/chemically induced
Inflammation/metabolism
Inflammation/physiopathology
Interleukin-1beta/physiology
Interleukin-6/physiology
Liver/physiopathology
Male
Poultry Diseases/chemically induced
Poultry Diseases/metabolism
Promoter Regions, Genetic/drug effects
Promoter Regions, Genetic/physiology
Real-Time Polymerase Chain Reaction/veterinary
STAT3 Transcription Factor/physiology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (CCAAT-Enhancer-Binding Protein-beta); 0 (Interleukin-1beta); 0 (Interleukin-6); 0 (Lipopolysaccharides); 0 (STAT3 Transcription Factor)
[Em] Entry month:1408
[Js] Journal subset:IM
[Da] Date of entry for processing:140109
[St] Status:MEDLINE
[do] DOI:10.1186/1746-6148-9-257

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[PMID]: 25012300
[Au] Autor:Almeida FT; Gomes RR; Leite AF; Sousa JB; Acevedo AC; Guerra EN
[Ti] Title:Oral manifestations of hereditary nonpolyposis colorectal cancer syndrome: a family case series.
[So] Source:J Med Case Rep;8:249, 2014.
[Is] ISSN:1752-1947
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Hereditary nonpolyposis colorectal cancer is a colorectal cancer syndrome characterized by the development of colorectal cancer and extracolonic tumors, and this syndrome has an autosomal dominant mode of inheritance. To our knowledge, our study was the first to find dento-osseous anomalies and the second to observe Fordyce granules in a family with individuals with hereditary nonpolyposis colorectal cancer. CASE PRESENTATIONS: Twenty members of one Brazilian family with individuals with hereditary nonpolyposis colorectal cancer were analyzed according to the presence of colorectal cancer and the occurrence of Fordyce granules and dento-osseous anomalies. Their average age was 29.6 (range 7 to 53 years) years. Medical examinations of this family with hereditary nonpolyposis colorectal cancer were performed at the Coloproctology Division of our hospital. Then, all individuals were referred to our Oral Care Center for Inherited Diseases for intraoral examinations to verify the presence of Fordyce granules. Dental panoramic radiographs were done in order to describe dento-osseous anomalies on applying the Dental Panoramic Radiograph System. Of the 20 family members, four were diagnosed with hereditary nonpolyposis colorectal cancer and all four presented Fordyce granules in their upper lip, but only one of these four patients (Case 2) had a significant dento-osseous anomaly. CONCLUSIONS: Our familial study verified the presence of Fordyce granules in all individuals diagnosed with hereditary nonpolyposis colorectal cancer, and the presence of significant dento-osseous anomalies in one of these cases. However, the relationship between oral manifestations and hereditary nonpolyposis colorectal cancer should be further investigated.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1407
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1186/1752-1947-8-249

  6 / 5488 MEDLINE  
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[PMID]: 24794118
[Au] Autor:Lamberts M; Lip GY; Ruwald MH; Hansen ML; Özcan C; Kristensen SL; Køber L; Torp-Pedersen C; Gislason GH
[Ad] Address:Department of Cardiology, Gentofte University Hospital, Hellerup, Copenhagen, Denmark. Electronic address: mortenlamberts@gmail.com....
[Ti] Title:Antithrombotic treatment in patients with heart failure and associated atrial fibrillation and vascular disease: a nationwide cohort study.
[So] Source:J Am Coll Cardiol;63(24):2689-98, 2014 Jun 24.
[Is] ISSN:1558-3597
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVES: The aim of this study was to investigate the impact of atrial fibrillation (AF) and antithrombotic treatment on the prognosis in patients with heart failure (HF) as well as vascular disease. BACKGROUND: HF, vascular disease, and AF are pathophysiologically related, and understanding antithrombotic treatment for these conditions is crucial. METHODS: In hospitalized patients with HF and coexisting vascular disease (coronary artery disease or peripheral arterial disease) followed from 1997 to 2009, AF status was categorized as prevalent AF, incident AF, or no AF. Risk of thromboembolism (TE), myocardial infarction (MI), and serious bleeding was assessed by Cox regression models (hazard ratio [HR] with 95% confidence interval [CI]) with antithrombotic therapy and AF as time-dependent variables. RESULTS: A total of 37,464 patients were included (age, 74.5 ± 10.7 years; 36.3% females) with a mean follow-up of 3 years during which 20.7% were categorized as prevalent AF and 17.2% as incident AF. Compared with vitamin K antagonist (VKA) in prevalent AF, VKA plus antiplatelet was not associated with a decreased risk of TE (HR: 0.91; 95% CI: 0.73 to 1.12) or MI (HR: 1.11; 95% CI: 0.96 to 1.28), whereas bleeding risk was significantly increased (HR: 1.31; 95% CI: 1.09 to 1.57). Corresponding estimates for incident AF were HRs of 0.77 (95% CI: 0.56 to 1.06), 1.07 (95% CI: 0.89 to 1.28), and 2.71 (95% CI: 1.33 to 2.21) for TE, MI, and bleeding, respectively. In no AF patients, no statistical differences were seen between antithrombotic therapies in TE or MI risk, whereas bleeding risk was significantly increased for VKA with and without single-antiplatelet therapy. CONCLUSIONS: In AF patients with coexisting HF and vascular disease, adding single-antiplatelet therapy to VKA therapy is not associated with additional benefit in thromboembolic or coronary risk, but notably increased bleeding risk.
[Mh] MeSH terms primary: Atrial Fibrillation/drug therapy
Fibrinolytic Agents/therapeutic use
Heart Failure/drug therapy
Vascular Diseases/drug therapy
[Mh] MeSH terms secundary: Aged
Aged, 80 and over
Atrial Fibrillation/diagnosis
Atrial Fibrillation/epidemiology
Cohort Studies
Denmark/epidemiology
Female
Follow-Up Studies
Heart Failure/diagnosis
Heart Failure/epidemiology
Hospitalization/trends
Humans
Male
Middle Aged
Registries
Retrospective Studies
Treatment Outcome
Vascular Diseases/diagnosis
Vascular Diseases/epidemiology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Fibrinolytic Agents)
[Em] Entry month:1408
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:140620
[St] Status:MEDLINE

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[PMID]: 23085209
[Au] Autor:Takimoto Y; Qian HY; Yoshigai E; Okumura T; Ikeya Y; Nishizawa M
[Ad] Address:Department of Biomedical Sciences, College of Life Sciences, Ritsumeikan University, Kusatsu, Shiga, Japan.
[Ti] Title:Gomisin N in the herbal drug gomishi (Schisandra chinensis) suppresses inducible nitric oxide synthase gene via C/EBPß and NF-κB in rat hepatocytes.
[So] Source:Nitric Oxide;28:47-56, 2013 Jan 15.
[Is] ISSN:1089-8611
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Gomishi is the dried fruit of Schisandra chinensis Baillon (Fructus Schisandrae chinensis, FSC) and has been used in Japanese Kampo medicine to treat inflammatory and liver diseases. However, it is unclear which constituent of FSC is primarily responsible for its pharmacological effects. FSC was extracted with methanol, fractionated by hydrophobicity, and further purified. We measured the effects of each fraction or constituent thereof on the induction of the inflammatory mediator nitric oxide (NO), which was induced by interleukin 1ß in primary cultured rat hepatocytes. The hydrophobic fraction markedly suppressed NO induction and reduced the expression of inducible nitric oxide syntheses (iNOS) in interleukin 1ß-treated hepatocytes. Gomisin N and γ-schizandrin, two major constituents of the hydrophobic fraction, significantly reduced NO production and the levels of the iNOS protein, mRNA, and antisense transcript. Gomisin N and γ-schizandrin also decreased the transcription of interleukin 1ß and inflammatory chemokines. The overexpression of the p65 subunit of nuclear factor κB or CCAAT/enhancer-binding protein ß increased the promoter activity of the iNOS gene in the firefly luciferase assay, whereas gomisin N decreased the promoter activity. The anti-inflammatory activity of FSC and its constituents were analysed, and we demonstrated that gomisin N and γ-schizandrin are involved in the hepatoprotective effect of the FSC extract, which has therapeutic potential for liver disease.
[Mh] MeSH terms primary: CCAAT-Enhancer-Binding Protein-beta/metabolism
Hepatocytes/drug effects
Lignans/pharmacology
NF-kappa B/metabolism
Nitric Oxide Synthase Type II/genetics
Polycyclic Compounds/pharmacology
Schisandra/chemistry
[Mh] MeSH terms secundary: Animals
Cells, Cultured
Cyclooctanes/chemistry
Cyclooctanes/pharmacology
Dose-Response Relationship, Drug
Hepatocytes/enzymology
Hepatocytes/metabolism
Lignans/chemistry
Male
Nitric Oxide/biosynthesis
Nitric Oxide Synthase Type II/biosynthesis
Polycyclic Compounds/chemistry
Rats
Rats, Wistar
Structure-Activity Relationship
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (CCAAT-Enhancer-Binding Protein-beta); 0 (Cyclooctanes); 0 (Lignans); 0 (NF-kappa B); 0 (Polycyclic Compounds); 31C4KY9ESH (Nitric Oxide); 64121-95-5 (schizandrin B); EC 1.14.13.39 (Nitric Oxide Synthase Type II)
[Em] Entry month:1408
[Js] Journal subset:IM
[Da] Date of entry for processing:130114
[St] Status:MEDLINE

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[PMID]: 24125747
[Au] Autor:Du-Thanh A; Frouin E; Vignon-Pennamen MD; Debu A; Guillot B; Dereure O
[Ad] Address:Department of Dermatology.
[Ti] Title:Solitary plaque of the labial commissure with contiguous mucosal involvement: a distinct subset of porokeratosis?
[So] Source:Eur J Dermatol;23(5):722-3, 2013 Sep-Oct.
[Is] ISSN:1952-4013
[Cp] Country of publication:France
[La] Language:eng
[Mh] MeSH terms primary: Facial Dermatoses/pathology
Mouth Diseases/pathology
Porokeratosis/pathology
[Mh] MeSH terms secundary: Facial Dermatoses/surgery
Female
Humans
Lip/pathology
Middle Aged
Mouth Diseases/surgery
Mouth Mucosa/pathology
Porokeratosis/surgery
[Pt] Publication type:CASE REPORTS; LETTER
[Em] Entry month:1408
[Js] Journal subset:IM
[Da] Date of entry for processing:131202
[St] Status:MEDLINE
[do] DOI:10.1684/ejd.2013.2128

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[PMID]: 24178751
[Au] Autor:Lopez E; Thauvin-Robinet C; Reversade B; Khartoufi NE; Devisme L; Holder M; Ansart-Franquet H; Avila M; Lacombe D; Kleinfinger P; Kaori I; Takanashi J; Le Merrer M; Martinovic J; Noël C; Shboul M; Ho L; Güven Y; Razavi F; Burglen L; Gigot N; Darmency-Stamboul V; Thevenon J; Aral B; Kayserili H; Huet F; Lyonnet S; Le Caignec C; Franco B; Rivière JB; Faivre L; Attié-Bitach T
[Ad] Address:Equipe d'accueil EA 4271 GAD "Génétique des Anomalies du Développement", IFR Santé STIC, Université de Bourgogne, Dijon, France, estl_l@yahoo.fr.
[Ti] Title:C5orf42 is the major gene responsible for OFD syndrome type VI.
[So] Source:Hum Genet;133(3):367-77, 2014 Mar.
[Is] ISSN:1432-1203
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma. Because of the MTS, OFD VI belongs to the "Joubert syndrome related disorders". Its genetic aetiology remains largely unknown although mutations in the TMEM216 gene, responsible for Joubert (JBS2) and Meckel-Gruber (MKS2) syndromes, have been reported in two OFD VI patients. To explore the molecular cause(s) of OFD VI syndrome, we used an exome sequencing strategy in six unrelated families followed by Sanger sequencing. We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and skeletal dysplasia. C5orf42 mutations have already been reported in Joubert syndrome confirming that OFD VI and JBS are allelic disorders, thus enhancing our knowledge of the complex, highly heterogeneous nature of ciliopathies.
[Mh] MeSH terms primary: Membrane Proteins/genetics
Orofaciodigital Syndromes/diagnosis
Orofaciodigital Syndromes/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Alleles
Cerebellar Diseases/diagnosis
Cerebellar Diseases/genetics
Cerebellum/abnormalities
Child
Developmental Disabilities/diagnosis
Developmental Disabilities/genetics
Exome
Eye Abnormalities/diagnosis
Eye Abnormalities/genetics
Female
Hamartoma/diagnosis
Hamartoma/genetics
Humans
Hypothalamic Diseases/diagnosis
Hypothalamic Diseases/genetics
Kidney Diseases, Cystic/diagnosis
Kidney Diseases, Cystic/genetics
Male
Mutation
Nervous System Malformations/diagnosis
Nervous System Malformations/genetics
Phenotype
Polydactyly/diagnosis
Polydactyly/genetics
Retina/abnormalities
Sequence Analysis, DNA
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (C5orf42 protein, human); 0 (Membrane Proteins)
[Em] Entry month:1404
[Cu] Class update date: 140804
[Lr] Last revision date:140804
[Js] Journal subset:IM
[Da] Date of entry for processing:140212
[St] Status:MEDLINE
[do] DOI:10.1007/s00439-013-1385-1

  10 / 5488 MEDLINE  
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[PMID]: 24460201
[Au] Autor:Koster MI; Dinella J; Chen J; O'Shea C; Koch PJ
[Ad] Address:Department of Dermatology, University of Colorado School of Medicine and Charles C Gates Center for Regenerative Medicine and Stem Cell Biology, University of Colorado School of Medicine , Aurora, CO , USA.
[Ti] Title:Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.
[So] Source:Cell Commun Adhes;21(1):55-63, 2014 Feb.
[Is] ISSN:1543-5180
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Desmosomes are intercellular junctions that provide tissues with structural stability. These junctions might also act as signaling centers that transmit environmental clues to the cell, thereby affecting cell differentiation, migration, and proliferation. The importance of desmosomes is underscored by devastating skin and heart diseases caused by mutations in desmosomal genes. Recent observations suggest that abnormal desmosomal protein expression might indirectly contribute to skin disorders previously not linked to these proteins. For example, it has been postulated that reduced desmosomal protein expression occurs in patients affected by Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), a skin fragility disorder caused by mutations in the transcription factor TP63. Currently, it is not clear how these changes in desmosomal gene expression contribute to AEC. We will discuss new approaches that combine in vitro and in vivo models to elucidate the role of desmosomal gene deregulation in human skin diseases such as AEC.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Em] Entry month:1401
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.3109/15419061.2013.876015


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