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[PMID]: 25296029
[Au] Autor:Schratzberger M; Larcombe P
[Ad] Address:Centre for Environment, Fisheries and Aquaculture Science, Lowestoft Laboratory, Lowestoft, Suffolk, United Kingdom.
[Ti] Title:The role of the sedimentary regime in shaping the distribution of subtidal sandbank environments and the associated meiofaunal nematode communities: an example from the southern north sea.
[So] Source:PLoS One;9(10):e109445, 2014.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We combined sediment and faunal data to explore the role of the sedimentary regime in shaping the distribution of subtidal sandbank environments and the associated meiofaunal nematode communities at Broken Bank and Swarte Bank, in the southern North Sea. A variety of sediment transport processes occur in the area, differing in the frequency and magnitude of sediment mobility, and the continuum between erosion, translation and sediment accumulation. The seabed contained a variety of bedforms, including longitudinal furrows, and small to very large sandwaves. The bed sediments were dominated by fine and medium sands, with admixtures of silt and gravel. Based on sedimentary bedforms and grain size analysis, a total of 11 sedimentary facies were delineated, of which 8 were analysed in detail for their relationships with the meiofauna. The sedimentary facies fell clearly into groups of facies, respectively representing high, high-moderate and moderate, and episodic sediment mobility. For those sedimentary facies where daily movement of sediments and bedforms occurred ('high' sediment mobility), the resulting spatially homogeneous environments were dominated by an impoverished nematode community comprising small deposit feeders and large predators. Resistance to sediment movement and the ability to exploit alternative food sources were prominent functional features of the successful colonisers. Those facies characterised by relatively infrequent sediment mobility ('episodic' and 'high-moderate and moderate' sediment mobility) comprised a heterogeneous suite of benthic habitats, containing taxonomically and functionally diverse assemblages of nematodes of various sizes, feeding types and reproductive potential. Faunal distribution patterns here indicated trade-offs between the resistance to sediment movement, environmental tolerance and competitive abilities. Our focus on diverse assemblages of organisms with high turnover times, inhabiting highly dynamic sedimentary environments, has revealed new animal-sediment relationships of relevance to pure and applied science.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1410
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1371/journal.pone.0109445

  2 / 5356 MEDLINE  
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[PMID]: 25172001
[Au] Autor:Koch A; Eisig S
[Ad] Address:Hospital Dentistry, Oral and Maxillofacial Surgery, Columbia University College of Dental Medicine, New York, NY, USA; Hospital Dental Service, New York-Presbyterian/Columbia University Medical Center, 180 Fort Washington Avenue, New York, NY 10032, USA. Electronic address: ak2045@columbia.edu.
[Ti] Title:Syndromes with unusual facies.
[So] Source:Atlas Oral Maxillofac Surg Clin North Am;22(2):205-10, 2014 Sep.
[Is] ISSN:1558-4275
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1408
[Js] Journal subset:D
[St] Status:In-Process

  3 / 5356 MEDLINE  
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[PMID]: 25247785
[Au] Autor:Anik A; Kersseboom S; Demir K; Catli G; Yis U; Böber E; van Mullem A; van Herebeek RE; Hiz S; Abaci A; Visser TJ
[Ad] Address:Department of Pediatric Endocrinology, Dokuz Eylul University, Izmir, Turkey.
[Ti] Title:Psychomotor Retardation Caused by a Defective Thyroid Hormone Transporter: Report of Two Families with Different MCT8 Mutations.
[So] Source:Horm Res Paediatr;82(4):261-71, 2014.
[Is] ISSN:1663-2826
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:BACKGROUND/AIMS: Monocarboxylate transporter 8 (MCT8) is essential for thyroid hormone (TH) transport in the brain. Mutations in MCT8 are associated with the Allan-Herndon-Dudley syndrome (AHDS), characterized by severe psychomotor retardation and altered serum thyroid parameters. Here we report two novel mutations in MCT8 and discuss the clinical findings. CASE REPORT AND RESULTS: We describe 4 males with AHDS from two unrelated families varying in age from 1.5 to 11 years. All 4 patients presented with typical clinical signs of AHDS, including severe psychomotor retardation, axial hypotonia, lack of speech, diminished muscle mass, increased muscle tone, hyperreflexia, myopathic facies, high T3, low T4 and rT3, and normal/mildly elevated TSH levels. Comparison of patients at different ages suggests the progressive nature of AHDS. Genetic analyses identified a novel missense MCT8 mutation (p.G495A) in family 1 and a 2.8-kb deletion comprising exons 3 and 4 in family 2. Functional analysis of p.G495A revealed impaired TH transport varying from 20 to 85% depending on the cell context. CONCLUSION: Here we report 4 AHDS patients in unrelated Turkish families harboring novel MCT8 mutations. Despite the widely different mutations, the clinical phenotypes are very similar and findings support the progressive nature of AHDS. © 2014 S. Karger AG, Basel.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1410
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1159/000365191

  4 / 5356 MEDLINE  
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[PMID]: 24172004
[Au] Autor:Santhosh BP; Jethmalani P
[Ad] Address:Reader, Department of Pedodontics and Preventive Dentistry Narsinhbhai Patel Dental College and Hospital, Visnagar, Gujarat India, e-mail: drsantosh_bp@yahoo.co.in.
[Ti] Title:Johanson-Blizzard syndrome: dental findings and management.
[So] Source:J Contemp Dent Pract;14(3):544-7, 2013 May-Jun.
[Is] ISSN:1526-3711
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:AIM: Oral rehabilitation of a child with Johanson-Blizzard syndrome (JBS). BACKGROUND: JBS is an extremely rare inherited disorder characterized by unusually small nose that appears 'beak shaped' due to the absence (aplasia) or underdevelopment (hypoplasia) of the nostrils (nasal alae), abnormally small, malformed primary (deciduous) teeth and misshapen or absent secondary (permanent) teeth, hearing disorder, hypothyroidism, dwarfism, malabsorption and mental retardation. It is sometimes described as a form of ectodermal dysplasia. CASE REPORT: Oral findings in JBS are very obscure in the literature. The present report describes oral findings in an 8 years old boy with JBS and his oral rehabilitation. CONCLUSION: JBS has an emotional consequence for the affected individuals at early ages. Oral rehabilitation in this case had a very positive impact on the child's mind. CLINICAL SIGNIFICANCE: Early identification and treatment of this disease is of great importance to rehabilitate the patient on functional, esthetic and psychological front.
[Mh] MeSH terms primary: Anus, Imperforate/diagnosis
Cheilitis/diagnosis
Dental Caries/diagnosis
Ectodermal Dysplasia/diagnosis
Growth Disorders/diagnosis
Hearing Loss, Sensorineural/diagnosis
Hypothyroidism/diagnosis
Intellectual Disability/diagnosis
Nose/abnormalities
Pancreatic Diseases/diagnosis
Tongue/abnormalities
[Mh] MeSH terms secundary: Anodontia/diagnosis
Child
Crowns
Denture, Partial, Fixed
Facies
Humans
Incisor/abnormalities
Male
Pulpotomy/methods
Space Maintenance/instrumentation
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1410
[Js] Journal subset:D; IM
[Da] Date of entry for processing:131031
[St] Status:MEDLINE

  5 / 5356 MEDLINE  
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[PMID]: 23793710
[Au] Autor:Bakhtiary F; Amer M; Etz CD; Dähnert I; Wilhelm Mohr F; Bellinghausen W; Kostelka M
[Ad] Address:Department of Cardiac Surgery, University of Leipzig, Heart Center, Leipzig, Germany.
[Ti] Title:Mid-term outcome after surgical repair of congenital supravalvular aortic stenosis by extended aortoplasty.
[So] Source:Interact Cardiovasc Thorac Surg;17(4):688-90, 2013 Oct.
[Is] ISSN:1569-9285
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:OBJECTIVES: Congenital supravalvular aortic stenosis (SVAS) is a rare arteriopathy associated with the Williams-Beuren syndrome (WBS) and other elastin gene deletions. Our objective was to review the mid-term outcomes of SVAS repair with extended aortoplasty. METHODS: Congenital SVAS repairs from 2001 to 2010 were retrospectively reviewed. The follow-up records, reintervention and reoperation data and most recent echocardiograms were obtained. RESULTS: From 2001 to 2010, 21 patients (15 males) underwent surgical repair of SVAS by extended aortoplasty with autologous pretreated pericardium, which is a modification of the Doty technique. The mean age was 3.1 ± 4.2 years. WBS was diagnosed in 14 of the patients. There was no early mortality, but one late death was observed. At the latest follow-up (mean follow-up, 4.3 ± 2.9 years; range, 1-108 months), echocardiograms revealed a peak Doppler gradient across the aortic outflow tract of 15 ± 8 mmHg. The majority of the patients had minimal to mild aortic insufficiency. No reoperation or reintervention was required. CONCLUSIONS: Extended aortoplasty provides excellent mid-term relief of SVAS and, in addition, reshapes the aortic root geometry to a much more favourable anatomical configuration. It can be performed without any increase in operative risks. The mid-term results are excellent.
[Mh] MeSH terms primary: Aortic Valve/surgery
Cardiac Surgical Procedures
Williams Syndrome/surgery
[Mh] MeSH terms secundary: Aortic Valve/ultrasonography
Autografts
Cardiac Surgical Procedures/adverse effects
Cardiac Surgical Procedures/mortality
Child
Child, Preschool
Echocardiography, Doppler
Female
Humans
Infant
Infant, Newborn
Male
Pericardium/transplantation
Retrospective Studies
Time Factors
Treatment Outcome
Williams Syndrome/diagnosis
Williams Syndrome/mortality
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1405
[Cu] Class update date: 141009
[Lr] Last revision date:141009
[Js] Journal subset:IM
[Da] Date of entry for processing:130925
[St] Status:MEDLINE
[do] DOI:10.1093/icvts/ivt236

  6 / 5356 MEDLINE  
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[PMID]: 25182392
[Au] Autor:Bezniakow N; Gos M; Obersztyn E
[Ad] Address:Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland, tel. (+48 22) 32-77-361, tel. (+48) 504-125-360, e-mail: natalia.bezniakow@imid.med.pl.
[Ti] Title:The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.
[So] Source:Dev Period Med;18(3):285-96, 2014 Jul-Sep.
[Is] ISSN:1428-345X
[Cp] Country of publication:Poland
[La] Language:eng
[Ab] Abstract:The RASopathies are a class of developmental syndromes. Each of them exhibits distinctive phenotypic features, although there are numerous overlapping clinical manifestations that include: dysmorphic craniofacial features, congenital cardiac defects, skin abnormalities, varying degrees of intellectual disability and increased risk of malignancies. These disorders include: Noonan syndrome, Costello syndrome, LEOPARD syndrome, cardio-facio-cutaneous syndrome (CFC), capillary malformation-arteriovenous malformation syndrome (CM-AVM), Legius syndrome and neurofibromatosis type 1 (NF1). The RASopathies are associated with the presence of germline mutation in genes encoding specific proteins of the RAS/mitogen - activated protein kinase (MAPK) pathway that plays a crucial role in embryonic and postnatal development. In this review, we present the clinical and molecular features of selected syndromes from the RASopathies group.
[Mh] MeSH terms primary: Arteriovenous Malformations/genetics
Capillaries/abnormalities
Craniofacial Abnormalities/genetics
Ectodermal Dysplasia/genetics
Failure to Thrive/genetics
Germ-Line Mutation
Heart Defects, Congenital/genetics
Mitogen-Activated Protein Kinases/genetics
Neurofibromatosis 1/genetics
Port-Wine Stain/genetics
ras Proteins/genetics
[Mh] MeSH terms secundary: Costello Syndrome
Facies
Humans
LEOPARD Syndrome/genetics
MAP Kinase Signaling System/genetics
Noonan Syndrome
Signal Transduction/genetics
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:EC 2.7.11.24 (Mitogen-Activated Protein Kinases); EC 3.6.5.2 (ras Proteins)
[Em] Entry month:1410
[Js] Journal subset:IM
[Da] Date of entry for processing:140903
[St] Status:MEDLINE

  7 / 5356 MEDLINE  
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[PMID]: 23770018
[Au] Autor:Moran ME; Weisinger B; Ludovici K; McAdams H; Greenstein D; Gochman P; Miller R; Clasen L; Rapoport J; Gogtay N
[Ad] Address:Child Psychiatry Branch, National Institute of Mental Health, NIH, United States. Electronic address: marcel.moran@nih.gov....
[Ti] Title:At the boundary of the self: the insular cortex in patients with childhood-onset schizophrenia, their healthy siblings, and normal volunteers.
[So] Source:Int J Dev Neurosci;32:58-63, 2014 Feb.
[Is] ISSN:1873-474X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The insular cortex (insula), whose normal function involves delineating the boundary between self and non-self stimuli, has been implicated in the pathophysiology of the positive symptoms of schizophrenia, including hallucinations and delusions. Childhood-onset schizophrenia (COS), that includes the onset of psychosis before age 13, is a severe and continuous form of the illness which shows profound and global progressive cortical brain abnormalities during adolescence which merge in the adult pattern with age. Using prospectively acquired anatomic brain magnetic resonance imaging (MRI) scans, a matched sample of COS patients, their nonpsychotic full siblings and healthy volunteers, we measured insular volume using the FreeSurfer automated software. COS patients (n=98; 234 scans) had significantly lower right (p=0.003), left (p<0.001), and total (p<0.001) insular volumes than healthy volunteers (n=100; 248 scans). Right insular volume negatively correlated with positive symptoms as measured by the Scale for the Assessment of Positive Symptoms (SAPS) (p=0.02), while both left (p=0.01) and right (p=0.006) insula volumes were positively correlated with overall functioning, as measured by the Children's Global Assessment Scale (CGAS) scores. COS siblings (n=71; 153 scans), on the other hand, did not differ significantly from normal volunteers suggesting that the insular deficits are more related to the illness state than a familial endophenotype. These results also highlight the salience of the insula in positive symptoms of schizophrenia perhaps resulting from the inability to discriminate between self from the non-self in COS. Further work to connect insular deficits to other neurocircuitries is warranted.
[Mh] MeSH terms primary: Cerebral Cortex/growth & development
Cerebral Cortex/pathology
Developmental Disabilities/etiology
Schizophrenia, Childhood/complications
Schizophrenia, Childhood/pathology
[Mh] MeSH terms secundary: Adolescent
Cerebral Palsy/etiology
Cerebral Palsy/pathology
Child
Child, Preschool
Developmental Disabilities/pathology
Diffusion Magnetic Resonance Imaging
Healthy Volunteers
Humans
Image Processing, Computer-Assisted
Infant
Magnetic Resonance Imaging
Reference Values
Rett Syndrome/etiology
Rett Syndrome/pathology
Siblings
Williams Syndrome/etiology
Williams Syndrome/pathology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., INTRAMURAL
[Em] Entry month:1410
[Js] Journal subset:IM
[Da] Date of entry for processing:140217
[St] Status:MEDLINE

  8 / 5356 MEDLINE  
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[PMID]: 23871472
[Au] Autor:Mulle JG; Pulver AE; McGrath JA; Wolyniec PS; Dodd AF; Cutler DJ; Sebat J; Malhotra D; Nestadt G; Conrad DF; Hurles M; Barnes CP; Ikeda M; Iwata N; Levinson DF; Gejman PV; Sanders AR; Duan J; Mitchell AA; Peter I; Sklar P; O'Dushlaine CT; Grozeva D; O'Donovan MC; Owen MJ; Hultman CM; Kähler AK; Sullivan PF; Kirov G; Warren ST; Molecular Genetics of Schizophrenia Consortium
[Ad] Address:Department of Epidemiology, Rollins School of Public Health, Emory University; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia. Electronic address: jmulle@emory.edu....
[Ti] Title:Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
[So] Source:Biol Psychiatry;75(5):371-7, 2014 Mar 1.
[Is] ISSN:1873-2402
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Several copy number variants (CNVs) have been implicated as susceptibility factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism spectrum disorders, suggesting an etiologic overlap between these conditions. Recently, de novo duplications of a region on chromosome 7q11.23 were associated with autism spectrum disorders. The reciprocal deletion of this region causes Williams-Beuren syndrome. METHODS: We assayed an Ashkenazi Jewish cohort of 554 SZ cases and 1014 controls for genome-wide CNV. An excess of large rare and de novo CNVs were observed, including a 1.4 Mb duplication on chromosome 7q11.23 identified in two unrelated patients. To test whether this 7q11.23 duplication is also associated with SZ, we obtained data for 14,387 SZ cases and 28,139 controls from seven additional studies with high-resolution genome-wide CNV detection. We performed a meta-analysis, correcting for study population of origin, to assess whether the duplication is associated with SZ. RESULTS: We found duplications at 7q11.23 in 11 of 14,387 SZ cases with only 1 in 28,139 control subjects (unadjusted odds ratio 21.52, 95% confidence interval: 3.13-922.6, p value 5.5 × 10(-5); adjusted odds ratio 10.8, 95% confidence interval: 1.46-79.62, p value .007). Of three SZ duplication carriers with detailed retrospective data, all showed social anxiety and language delay premorbid to SZ onset, consistent with both human studies and animal models of the 7q11.23 duplication. CONCLUSIONS: We have identified a new CNV associated with SZ. Reciprocal duplication of the Williams-Beuren syndrome deletion at chromosome 7q11.23 confers an approximately tenfold increase in risk for SZ.
[Mh] MeSH terms primary: Chromosomes, Human, Pair 7/genetics
DNA Copy Number Variations/genetics
Schizophrenia/genetics
Williams Syndrome/genetics
[Mh] MeSH terms secundary: Humans
Longitudinal Studies
Schizophrenia/complications
Williams Syndrome/complications
[Pt] Publication type:JOURNAL ARTICLE; META-ANALYSIS; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1410
[Js] Journal subset:IM
[Da] Date of entry for processing:140210
[St] Status:MEDLINE

  9 / 5356 MEDLINE  
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[PMID]: 25223409
[Au] Autor:Cervantes A; García-Delgado C; Fernández-Ramírez F; Galaz-Montoya C; Morales-Jiménez AB; Nieto-Martínez K; Gómez-Laguna L; Villa-Morales J; Quintana-Palma M; Berúmen J; Kofman S; Morán-Barroso VF
[Ti] Title:Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.
[So] Source:BMC Med Genomics;7:55, 2014.
[Is] ISSN:1755-8794
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Trisomy 1q and monosomy 3p deriving from a t(1;3) is an infrequent event. The clinical characteristics of trisomy 1q41-qter have been described but there is not a delineation of the syndrome. The 3p25.3-pter monosomy syndrome (MIM 613792) characteristics include low birth weight, microcephaly, psychomotor and growth retardation and abnormal facies. CASE PRESENTATION: A 2 years 8 months Mexican mestizo male patient was evaluated due to a trisomy 1q and monosomy 3p derived from a familial t(1;3)(q41;q26.3). Four female carriers of the balanced translocation and one relative that may have been similarly affected as the proband were identified. The implicated chromosomal regions were defined by microarray analysis, the patient had a trisomy 1q41-qter of 30.3 Mb in extension comprising about 240 protein coding genes and a monosomy 3p26.3-pter of 1.7 Mb including only the genes CNTN6 (MIM 607220) and CHL1 (MIM 607416), which have been implicated in dendrite development. Their contribution to the phenotype, regarding the definition of trisomy 1q41-qter and monosomy 3p26.3-pter syndromes are discussed. CONCLUSION: We propose that a trisomy 1q41-qter syndrome should be considered in particular when the following characteristics are present: postnatal growth delay, macrocephaly, wide fontanelle, triangular facies, frontal bossing, thick eye brows, down slanting palpebral fissures, hypertelorism, flat nasal bridge, hypoplasic nostrils, long filtrum, high palate, microretrognathia, ear abnormalities, neural abnormalities (in particular ventricular dilatation), psychomotor developmental delay and mental retardation. Our patient showed most of these clinical characteristics with exception of macrocephaly, possibly due to a compensatory effect by haploinsufficiency of the two genes lost from 3p. The identification of carriers has important implications for genetic counseling as the risk of a new born with either a der(3) or der(1) resulting from an adjacent-1 segregation is of 25% for each of them, as the products of adjacent-2 or 3:1 segregations are not expected to be viable.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1409
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1186/1755-8794-7-55

  10 / 5356 MEDLINE  
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[PMID]: 24489909
[Au] Autor:Musharraf A; Kruspe D; Tomasch J; Besenbeck B; Englert C; Landgraf K
[Ad] Address:Leibniz Institute for Age Research - Fritz Lipmann Institute e. V. (FLI), Jena, Germany....
[Ti] Title:BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.
[So] Source:PLoS One;9(1):e87407, 2014.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mutations in the human EYA1 gene have been associated with several human diseases including branchio-oto (BO) and branchio-oto-renal (BOR) syndrome, as well as congenital cataracts and ocular anterior segment anomalies. BOR patients suffer from severe malformations of the ears, branchial arches and kidneys. The phenotype of Eya1-heterozygous mice resembles the symptoms of human patients suffering from BOR syndrome. The Eya1 gene encodes a multifunctional protein that acts as a protein tyrosine phosphatase and a transcriptional coactivator. It has been shown that Eya1 interacts with Six transcription factors, which are also required for nuclear translocation of the Eya1 protein. We investigated the effects of seven disease-causing Eya1 missense mutations on Eya1 protein function, in particular cellular localization, ability to interact with Six proteins, and protein stability. We show here that the BOR-associated Eya1 missense mutations S454P, L472R, and L550P lead to enhanced proteasomal degradation of the Eya1 protein in mammalian cells. Moreover, Six proteins lead to a significant stabilization of Eya1, which is caused by Six-mediated protection from proteasomal degradation. In case of the mutant L550P, loss of interaction with Six proteins leads to rapid protein degradation. Our observations suggest that protein destabilization constitutes a novel disease causing mechanism for Eya1.
[Mh] MeSH terms primary: Branchio-Oto-Renal Syndrome/genetics
Intracellular Signaling Peptides and Proteins/genetics
Nuclear Proteins/genetics
Proteasome Endopeptidase Complex/metabolism
Protein Tyrosine Phosphatases/genetics
[Mh] MeSH terms secundary: Animals
COS Cells
Cell Line, Tumor
Cell Nucleus/metabolism
Cercopithecus aethiops
Homeodomain Proteins/metabolism
Humans
Intracellular Signaling Peptides and Proteins/metabolism
Mice
Mutation, Missense
Nuclear Proteins/metabolism
Protein Binding
Protein Stability
Protein Transport
Protein Tyrosine Phosphatases/metabolism
Proteolysis
Ubiquitination
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Homeodomain Proteins); 0 (Intracellular Signaling Peptides and Proteins); 0 (Nuclear Proteins); EC 3.1.3.48 (Eya1 protein, mouse); EC 3.1.3.48 (Protein Tyrosine Phosphatases); EC 3.4.25.1 (Proteasome Endopeptidase Complex)
[Em] Entry month:1410
[Js] Journal subset:IM
[Da] Date of entry for processing:140203
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0087407


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