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[PMID]: 20500075
[Au] Autor:Makeyev AV; Bayarsaihan D
[Ti] Title:Molecular basis of Williams-Beuren syndrome: TFII-I regulated targets involved in craniofacial development.
[So] Source:Cleft Palate Craniofac J;48(1):109-16, 2011 Jan.
[Is] ISSN:1545-1569
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: The aim of this study is to identify gene targets of TFII-I transcription factors involved in craniofacial development. DESIGN: Recent findings in individuals with Williams-Beuren syndrome who show facial dysmorphism and cognitive defects have pointed to TFII-I genes (GTF2I and GTF2IRD1) as the prime candidates responsible for these clinical features. However, TFII-I proteins are multifunctional transcriptional factors regulating a number of genes during development, and how their haploinsufficiency leads to the Williams-Beuren syndrome phenotype is currently unknown. RESULTS: Here we report the identification of three genes with a well-established relevance to craniofacial development as direct TFII-I targets. These genes, craniofacial development protein 1 (Cfdp1), Sec23 homolog A (Sec23a), and nuclear receptor binding SET domain protein 1 (Nsd1), contain consensus TFII-I binding sites in their proximal promoters; the chromatin immunoprecipitation analysis showed that TFII-I transcription factors are recruited to these sites in vivo. CONCLUSIONS: The results suggest that transcriptional regulation of these genes by TFII-I proteins could provide a possible genotype-phenotype link in Williams-Beuren syndrome.
[Mh] MeSH terms primary: Carrier Proteins/genetics
Nuclear Proteins/genetics
Proteins/genetics
Transcription Factors, TFII/genetics
Vesicular Transport Proteins/genetics
Williams Syndrome/genetics
[Mh] MeSH terms secundary: Abnormalities, Multiple/genetics
Animals
Chromatin Immunoprecipitation
Electrophoretic Mobility Shift Assay
Embryonic Development/genetics
Gene Expression Profiling
Mice
Microarray Analysis
Muscle Proteins/genetics
Phenotype
Real-Time Polymerase Chain Reaction
Trans-Activators/genetics
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Carrier Proteins); 0 (Cfdp protein, mouse); 0 (Gtf2i protein, mouse); 0 (Gtf2ird1 protein, mouse); 0 (Muscle Proteins); 0 (Nsd1 protein, mouse); 0 (Nuclear Proteins); 0 (Proteins); 0 (Sec23a protein, mouse); 0 (Trans-Activators); 0 (Transcription Factors, TFII); 0 (Vesicular Transport Proteins)
[Em] Entry month:1407
[Cu] Class update date: 140905
[Lr] Last revision date:140905
[Js] Journal subset:D; IM
[Da] Date of entry for processing:110126
[St] Status:MEDLINE
[do] DOI:10.1597/09-093

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[PMID]: 25190157
[Au] Autor:Zheng J; Huang Y; Zhao X; Sheng H; Cheng J; Zhou Z; Li X; Mao X; Liu L
[Ad] Address:The Guangzhou Women and Children's Medical Centre, Guangzhou 510623, China....
[Ti] Title:[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
[So] Source:Zhonghua Er Ke Za Zhi;52(6):403-8, 2014 Jun.
[Is] ISSN:0578-1310
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase B(ARSB), which is required in the degradation of dermatan sulfate and chondroitin sulfate. The deficiency of ARSB leads to an accumulation of dermatan sulfate and chondroitin sulfate in lysosomes and gross excretion in the urine.Few articles about clinical study and ARSB gene mutation analysis of Chinese MPS VI patients were published. This study aimed to explore the clinical features and characteristics of ARSB gene in Chinese children with MPS VI. METHOD: Thirteen children were diagnosed as MPS VI by ARSB enzyme activity determination during the period from 2009 to 2013. Their clinical features, radiological findings and urine glycosaminoglycan (GAG) levels were retrospectively reviewed. Direct sequencing was used to identify any mutation in the ARSB gene. RESULT: Thirteen children were diagnosed at the average age of (3.9 ± 2.2) years with 6 male and 7 female. All of these children presented with severe form and onset at an early age of (1.5 ± 0.8) years.Other clinical features included coarse facies, short stature, skeleton deformity, corneal clouding, hepatosplenomegaly with normal intelligence. The radiological findings in all children were characteristic of dysostosis multiplex, like abnormal development of vertebral bodies of the spine, campylorrhachia and paddle-shaped widened ribs. The MRI in case 2 showed cervical cord compression and multiple cysts degeneration in the corona radiate, cella lateralis and callosum.High urine GAG levels were detected, (307.10 ± 112.14) mg/L (Normally below 70 mg/L) and (722.28 ± 245.68) µg/mg creatinine. The ARSB enzyme activity in leukocytes was low, (13.29 ± 6.22) nmol/(mg×h) [Normal range (47-169) nmol/(mg×h)] by fluorogenic assay and (0.24 ± 0.18) U/g [Normal range (1.01-11.47) U/g] by colorimetric assay. A total of 11 mutations were identified by molecular analysis, including seven previously reported mutations (p.L72R, p.G167R, p.G303E, p.F399L, p. T442M, p.Y255X and p.R327X) and four novel mutations (p.Y175D, p.S403X, p.S464X and large deletion including ex. 2, 3). The c.1197C>G (p.F399L) mutation was the most common mutation in this study (31%). CONCLUSION: The severe form of MPS VI is characterized by early onset and rapid illness progression. Both the radiological findings and increased urine GAG are important clues to diagnose MPS VI.Large decrease or absence of ARSB activity is diagnostic for MPS VI.Four novel mutations of ARSB gene were identified. The reported mutation c.1197C>G (p.F399L) was the hot-spot mutation in this study.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1409
[Js] Journal subset:IM
[St] Status:In-Data-Review

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[PMID]: 25141071
[Au] Autor:Kuenzig ME; Rezaie A; Seow CH; Otley AR; Steinhart AH; Griffiths AM; Kaplan GG; Benchimol EI
[Ad] Address:Department of Medicine, University of Calgary, Calgary, AB, Canada.
[Ti] Title:Budesonide for maintenance of remission in Crohn's disease.
[So] Source:Cochrane Database Syst Rev;8:CD002913, 2014.
[Is] ISSN:1469-493X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Corticosteroids are effective for induction, but not maintenance of remission in Crohn's disease. Significant concerns exist regarding the risk for adverse events, particularly when corticosteroids are used for long treatment courses. Budesonide is a glucocorticoid with limited systemic bioavailability due to extensive first-pass hepatic metabolism and is effective for induction of remission in Crohn's disease. OBJECTIVES: To evaluate the efficacy and safety of oral budesonide for maintenance of remission in Crohn's disease. SEARCH METHODS: The following databases were searched from inception to 12 June 2014: PubMed, MEDLINE, EMBASE, CENTRAL, the Cochrane IBD/FBD Group Specialised Trial Register, and ClinicalTrials.gov. Reference lists of articles, as well as conference proceedings were manually searched. SELECTION CRITERIA: Randomized controlled trials comparing budesonide to a control treatment, or comparing two doses of budesonide, were included. The study population included patients of any age with quiescent Crohn's disease. DATA COLLECTION AND ANALYSIS: Two independent investigators reviewed studies for eligibility, extracted data and assessed study quality using the Cochrane risk of bias tool. The primary outcome was maintenance of remission at various reported follow-up times during the study. Secondary outcomes included: time to relapse, mean change in CDAI, clinical, histological, improvement in quality of life, adverse events and study withdrawal. We calculated the risk ratio (RR) and corresponding 95% confidence interval (95% CI) for dichotomous outcomes and the mean difference (MD) and 95% CI for continuous outcomes. Data were analysed on an intention-to-treat basis. The Chi(2) and I(2) statistics were used to assess heterogeneity. Random-effects models were used to allow for expected clinical and statistical heterogeneity. The overall quality of the evidence supporting the primary outcome was assessed using the GRADE criteria. MAIN RESULTS: Twelve studies (n = 1273 patients) were included in the review: eight studies compared budesonide to placebo, one compared budesonide to 5-aminosalicylates, one compared budesonide to traditional systemic corticosteroids, one compared budesonide to azathioprine, and one compared two doses of budesonide. Nine studies used a controlled ileal release form of budesonide, while three used a pH-modified release formulation. Nine studies were judged to be at low risk of bias. Three studies were judged to be at high risk of bias due to blinding and one of these studies also had inadequate allocation concealment. Budesonide 6 mg daily was no more effective than placebo for maintenance of remission at 3 months, 6 months or 12 months. At three months 64% of budesonide 6 mg patients remained in remission compared to 52% of placebo patients (RR 1.25, 95% CI 1.00 to 1.58; 6 studies, 540 patients). A GRADE analysis indicated that the overall quality of the evidence for this outcome was low due to moderate heterogeneity (I(2) = 56%) and sparse data (315 events). At six months 61% of budesonide 6 mg patients remained in remission compared to 52% of placebo patients (RR 1.15, 95% CI 0.95 to 1.39; 5 studies, 420 patients). A GRADE analysis indicated that the overall quality of the evidence for this outcome was moderate due to sparse data (238 events). At 12 months 55% of budesonide 6 mg patients remained in remission compared to 48% of placebo patients (RR 1.13; 95% CI 0.94 to 1.35; 5 studies, 420 patients). A GRADE analysis indicated that the overall quality of the evidence for this outcome was moderate due to sparse data (215 events). Similarly, there was no significant benefit for budesonide 3 mg compared to placebo at 6 and 12 months. There was no statistically significant difference in continued remission at 12 months between budesonide and weaning doses of prednisolone (RR 0.79; 95% CI 0.55 to 1.13; 1 study, 90 patients). A GRADE analysis indicated that the overall quality of the evidence supporting this outcome was low due to sparse data (51 events) and high risk of bias (no blinding). Budesonide 6 mg was better than mesalamine 3 g/day at 12 months (RR 2.51, 95% CI 1.03 to 6.12; 1 study, 57 patients). A GRADE analysis indicated that the overall quality of the evidence supporting this outcome was very low due to very sparse data (18 events) and high risk of bias (no blinding). There was no statistically significant difference in continued remission at 12 months between budesonide and azathioprine (RR 0.81; 95% CI 0.61 to 1.08; 1 study 77 patients). A GRADE analysis indicated that the overall quality of the evidence supporting this outcome was very low due to sparse data (55 events) and high risk of bias (single-blind and no allocation concealment). The use of budesonide 6 mg resulted in slight improvements in CDAI scores when assessed at 6 months (MD -24.30, 95% CI -46.31 to -2.29) and 12 months (MD -23.49, 95% CI -46.65 to -0.32) and mean time to relapse of disease (MD 59.93 days, 95% CI 19.02 to 100.84). Mean time to relapse was significantly shorter for patients receiving budesonide than for those receiving azathioprine (MD -58.00, 95% CI -96.68 to -19.32). Adverse events were not more common in patients treated with budesonide compared to placebo (6 mg: RR 1.51, 95% CI 0.90 to 2.52; 3 mg: RR 1.19, 95% CI 0.63 to 2.24). These events were relatively minor and did not result in increased rates of study withdrawal. Commonly reported treatment-related adverse effects included acne, moon facies, hirsutism, mood swings, insomnia, weight gain, striae, and hair loss. Abnormal adrenocorticoid stimulation tests were seen more frequently in patients receiving both 6 mg (RR 2.88, 95% CI 1.72 to 4.82) and 3 mg daily (RR 2.73, 95% CI 1.34 to 5.57) compared to placebo. AUTHORS' CONCLUSIONS: These data suggest budesonide is not effective for maintenance of remission in CD, particularly when used beyond three months following induction of remission. Budesonide does have minor benefits in terms of lower CDAI scores and longer time to relapse of disease. However, these benefits are offset by higher treatment-related adverse event rates and more frequent adrenocorticoid suppression in patients receiving budesonide.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1409
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1002/14651858.CD002913.pub3

  4 / 5311 MEDLINE  
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[PMID]: 24033332
[Au] Autor:Yeboah-Forson A; Whitman D
[Ad] Address:Department of Earth and Environment, Florida International University, 11200 SW 8th Street, Miami, FL 33199.
[Ti] Title:Electrical resistivity characterization of anisotropy in the biscayne aquifer.
[So] Source:Ground Water;52(5):728-36, 2014 Sep.
[Is] ISSN:1745-6584
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Electrical anisotropy occurs when electric current flow varies with azimuth. In porous media, this may correspond to anisotropy in the hydraulic conductivity resulting from sedimentary fabric, fractures, or dissolution. In this study, a 28-electrode resistivity imaging system was used to investigate electrical anisotropy at 13 sites in the Biscayne Aquifer of SE Florida using the rotated square array method. The measured coefficient of electrical anisotropy generally ranged from 1.01 to 1.12 with values as high as 1.36 found at one site. The observed electrical anisotropy was used to estimate hydraulic anisotropy (ratio of maximum to minimum hydraulic conductivity) which ranged from 1.18 to 2.83. The largest values generally were located on the Atlantic Coastal Ridge while the lowest values were in low elevation areas on the margin of the Everglades to the west. The higher values of anisotropy found on the ridge may be due to increased dissolution rates of the oolitic facies of the Miami formation limestone compared with the bryozoan facies to the west. The predominate trend of minimum resistivity and maximum hydraulic conductivity was E-W/SE-NW beneath the ridge and E-W/SW-NE farther west. The anisotropy directions are similar to the predevelopment groundwater flow direction as indicated in published studies. This suggests that the observed anisotropy is related to the paleo-groundwater flow in the Biscayne Aquifer.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1409
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1111/gwat.12107

  5 / 5311 MEDLINE  
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[PMID]: 24295753
[Au] Autor:Chaudhuri S; Ale S
[Ad] Address:Texas A&M AgriLife Research, Texas A&M University System, P.O. Box 1658, Vernon, TX 76385, United States. Electronic address: schaudhuri@ag.tamu.edu.
[Ti] Title:Temporal evolution of depth-stratified groundwater salinity in municipal wells in the major aquifers in Texas, USA.
[So] Source:Sci Total Environ;472:370-80, 2014 Feb 15.
[Is] ISSN:1879-1026
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:We assessed spatial distribution of total dissolved solids (TDS) in shallow (<50 m), intermediate (50-150 m), and deep (>150 m) municipal (domestic and public supply) wells in nine major aquifers in Texas for the 1960s-1970s and 1990s-2000s periods using geochemical data obtained from the Texas Water Development Board. For both time periods, the highest median groundwater TDS concentrations in shallow wells were found in the Ogallala and Pecos Valley aquifers and that in the deep wells were found in the Trinity aquifer. In the Ogallala, Pecos Valley, Seymour and Gulf Coast aquifers, >60% of observations from shallow wells exceeded the secondary maximum contaminant level (SMCL) for TDS (500 mg L(-1)) in both time periods. In the Trinity aquifer, 72% of deep water quality observations exceeded the SMCL in the 1990s-2000s as compared to 64% observations in the 1960s-1970s. In the Ogallala, Edwards-Trinity (plateau), and Edwards (Balcones Fault Zone) aquifers, extent of salinization decreased significantly (p<0.05) with well depth, indicating surficial salinity sources. Geochemical ratios revealed strong adverse effects of chloride (Cl(-)) and sulfate (SO4(2-)) on groundwater salinization throughout the state. Persistent salinity hotspots were identified in west (southern Ogallala, north-west Edwards-Trinity (plateau) and Pecos Valley aquifers), north central (Trinity-downdip aquifer) and south (southern Gulf Coast aquifer) Texas. In west Texas, mixed cation SO4-Cl facies led to groundwater salinization, as compared to Na-Cl facies in the southern Gulf Coast, and Ca-Na-HCO3 and Na-HCO3 facies transitioning to Na-Cl facies in the Trinity-downdip regions. Groundwater mixing ensuing from cross-formational flow, seepage from saline plumes and playas, evaporative enrichment, and irrigation return flow had led to progressive groundwater salinization in west Texas, as compared to ion-exchange processes in the north-central Texas, and seawater intrusion coupled with salt dissolution and irrigation return flow in the southern Gulf Coast regions.
[Mh] MeSH terms primary: Environmental Monitoring
Groundwater/chemistry
Salinity
Water Supply/statistics & numerical data
[Mh] MeSH terms secundary: Seawater/analysis
Texas
Water Pollutants, Chemical/analysis
Water Supply/analysis
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Water Pollutants, Chemical)
[Em] Entry month:1409
[Js] Journal subset:IM
[Da] Date of entry for processing:140127
[St] Status:MEDLINE

  6 / 5311 MEDLINE  
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[PMID]: 24161570
[Au] Autor:Manthey AL; Lachke SA; FitzGerald PG; Mason RW; Scheiblin DA; McDonald JH; Duncan MK
[Ad] Address:Department of Biological Sciences, University of Delaware, Newark, DE 19716, USA....
[Ti] Title:Loss of Sip1 leads to migration defects and retention of ectodermal markers during lens development.
[So] Source:Mech Dev;131:86-110, 2014 Feb.
[Is] ISSN:1872-6356
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:SIP1 encodes a DNA-binding transcription factor that regulates multiple developmental processes, as highlighted by the pleiotropic defects observed in Mowat-Wilson syndrome, which results from mutations in this gene. Further, in adults, dysregulated SIP1 expression has been implicated in both cancer and fibrotic diseases, where it functionally links TGFß signaling to the loss of epithelial cell characteristics and gene expression. In the ocular lens, an epithelial tissue important for vision, Sip1 is co-expressed with epithelial markers, such as E-cadherin, and is required for the complete separation of the lens vesicle from the head ectoderm during early ocular morphogenesis. However, the function of Sip1 after early lens morphogenesis is still unknown. Here, we conditionally deleted Sip1 from the developing mouse lens shortly after lens vesicle closure, leading to defects in coordinated fiber cell tip migration, defective suture formation, and cataract. Interestingly, RNA-Sequencing analysis on Sip1 knockout lenses identified 190 differentially expressed genes, all of which are distinct from previously described Sip1 target genes. Furthermore, 34% of the genes with increased expression in the Sip1 knockout lenses are normally downregulated as the lens transitions from the lens vesicle to early lens, while 49% of the genes with decreased expression in the Sip1 knockout lenses are normally upregulated during early lens development. Overall, these data imply that Sip1 plays a major role in reprogramming the lens vesicle away from a surface ectoderm cell fate towards that necessary for the development of a transparent lens and demonstrate that Sip1 regulates distinctly different sets of genes in different cellular contexts.
[Mh] MeSH terms primary: Cadherins/genetics
Hirschsprung Disease/genetics
Intellectual Disability/genetics
Lens, Crystalline/growth & development
Microcephaly/genetics
Nerve Tissue Proteins/genetics
[Mh] MeSH terms secundary: Animals
Biological Markers
Cadherins/metabolism
Cell Differentiation/genetics
Ectoderm/growth & development
Ectoderm/metabolism
Epithelial Cells/metabolism
Facies
Gene Expression Regulation, Developmental
Lens, Crystalline/metabolism
Mice
Mice, Knockout
Nerve Tissue Proteins/metabolism
Sequence Analysis, RNA
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Nm] Name of substance:0 (Biological Markers); 0 (Cadherins); 0 (Nerve Tissue Proteins); 0 (Sip1 protein, mouse)
[Em] Entry month:1409
[Js] Journal subset:IM
[Da] Date of entry for processing:140115
[St] Status:MEDLINE

  7 / 5311 MEDLINE  
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[PMID]: 23861142
[Au] Autor:Pradier B; Jeub M; Markert A; Mauer D; Tolksdorf K; Van de Putte T; Seuntjens E; Gailus-Durner V; Fuchs H; Hrabe de Angelis M; Huylebroeck D; Beck H; Zimmer A; Rácz I
[Ad] Address:Institute of Molecular Psychiatry, University of Bonn Medical Center, Germany.
[Ti] Title:Smad-interacting protein 1 affects acute and tonic, but not chronic pain.
[So] Source:Eur J Pain;18(2):249-57, 2014 Feb.
[Is] ISSN:1532-2149
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Smad-interacting protein 1 (also named Zeb2 and Zfhx1b) is a transcription factor that plays an important role in neuronal development and, when mutated, causes Mowat-Wilson syndrome (MWS). A corresponding mouse model carrying a heterozygous Zeb2 deletion was comprehensively analysed in the German Mouse Clinic. The most prominent phenotype was the reduced pain sensitivity. In this study, we investigated the role of Zeb2 in inflammatory and neuropathic pain. METHODS: For this, we tested mutant Zeb2 animals in different models of inflammatory pain like abdominal constriction, formalin and carrageenan test. Furthermore, we studied the pain reactivity of the mice after peripheral nerve ligation. To examine the nociceptive transmission of primary sensory dorsal root ganglia (DRG) neurons, we determined the neuronal activity in the spinal dorsal horn after the formalin test using staining of c-Fos. Next, we characterized the neuronal cell population in the DRGs and in the sciatic nerve to study the effect of the Zeb2 mutation on peripheral nerve morphology. RESULTS: The present data show that Zeb2 is involved in the development of primary sensory DRG neurons, especially of C- and Aδ fibres. These alterations contribute to a hypoalgesic phenotype in inflammatory but not in neuropathic pain in these Zeb2(+/-) mice. CONCLUSION: Our data suggest that the under-reaction to pain observed in MWS patients results from a reduced responsivity to nociceptive stimulation rather than an inability to communicate discomfort.
[Mh] MeSH terms primary: Acute Pain/genetics
Ganglia, Spinal/metabolism
Hirschsprung Disease/genetics
Homeodomain Proteins/genetics
Intellectual Disability/genetics
Microcephaly/genetics
Neuralgia/genetics
Repressor Proteins/genetics
Transcription Factors/metabolism
[Mh] MeSH terms secundary: Animals
Chronic Pain/genetics
Chronic Pain/metabolism
Disease Models, Animal
Facies
Female
Genetic Predisposition to Disease
Male
Mice
Mutation/genetics
Neuralgia/metabolism
Pain Measurement/methods
Spinal Cord/metabolism
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Homeodomain Proteins); 0 (Repressor Proteins); 0 (Transcription Factors); 0 (Zfhx1b protein, mouse)
[Em] Entry month:1409
[Js] Journal subset:IM
[Da] Date of entry for processing:140107
[St] Status:MEDLINE
[do] DOI:10.1002/j.1532-2149.2013.00366.x

  8 / 5311 MEDLINE  
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[PMID]: 23950017
[Au] Autor:Brown N; Burgess T; Forbes R; McGillivray G; Kornberg A; Mandelstam S; Stark Z
[Ad] Address:Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Australia; University of Melbourne, Parkville, Australia.
[Ti] Title:5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.
[So] Source:Am J Med Genet A;161A(10):2604-8, 2013 Oct.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The 5q31.3 microdeletion syndrome has recently emerged as a distinct clinical entity, and we report two new patients with de novo deletions of this region, bringing the total to seven. Similarly to previously reported cases, the phenotype of our patients is characterized by marked hypotonia, apnea, developmental delay, and feeding difficulties. Both patients had abnormal movements which did not correlate with epileptiform activity on electroencephalogram (EEG). Developmental brain changes on neuroimaging consisted of abnormalities predominantly affecting the white matter and frontal lobes. The 5q31.3 deleted regions overlap those of previously reported cases, and allow further refinement of the shortest region of overlap to 101 kb, including only three genes. Of these, the purine-rich element binding protein A (PURA) gene has an established role in brain development, and we propose that haploinsufficiency for this gene is primarily responsible for the neurodevelopmental features observed.
[Mh] MeSH terms primary: Chromosome Deletion
Chromosomes, Human, Pair 5
[Mh] MeSH terms secundary: Brain/pathology
Comparative Genomic Hybridization
Facies
Female
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Male
Phenotype
Syndrome
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1405
[Cu] Class update date: 140903
[Lr] Last revision date:140903
[Js] Journal subset:IM
[Da] Date of entry for processing:130930
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.36108

  9 / 5311 MEDLINE  
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[PMID]: 23950000
[Au] Autor:Sekiguchi K; Maeda T; Suenobu S; Kunisaki N; Shimizu M; Kiyota K; Handa YS; Akiyoshi K; Korematsu S; Aoki Y; Matsubara Y; Izumi T
[Ad] Address:Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.
[Ti] Title:A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.
[So] Source:Am J Med Genet A;161A(10):2600-3, 2013 Oct.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:A male infant, born at 32 weeks gestation by cesarean because of hydrops fetalis, presented with multiple anomalies, such as sparse and curly scalp hair, absent eyebrows, frontal bossing, an atrial septal defect, pulmonary artery stenosis, and whole myocardial thickening. He was clinically diagnosed with cardio-facio-cutaneous (CFC) syndrome, and was confirmed to have a germline V-raf murine sarcoma viral oncogene homologue B1 (BRAF) c.721 A>C mutation. At 1 month of age, he presented with a transient myelodysplastic/myeloproliferative neoplasm (MDS/MPN), which improved within a month without the administration of antineoplastic agents. This is the first report of CFC syndrome with MDS/MPN. The coexistence of MDS/MPN may be related to this BRAF c.721 A>C mutation.
[Mh] MeSH terms primary: Down Syndrome/complications
Ectodermal Dysplasia/complications
Ectodermal Dysplasia/genetics
Failure to Thrive/complications
Failure to Thrive/genetics
Germ-Line Mutation
Heart Defects, Congenital/complications
Heart Defects, Congenital/genetics
Leukemoid Reaction/complications
Proto-Oncogene Proteins B-raf/genetics
[Mh] MeSH terms secundary: Amino Acid Substitution
Codon
Down Syndrome/diagnosis
Ectodermal Dysplasia/diagnosis
Facies
Failure to Thrive/diagnosis
Genotype
Heart Defects, Congenital/diagnosis
Humans
Infant, Newborn
Leukemoid Reaction/diagnosis
Male
Phenotype
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Codon); EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
[Em] Entry month:1405
[Cu] Class update date: 140903
[Lr] Last revision date:140903
[Js] Journal subset:IM
[Da] Date of entry for processing:130930
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.36107

  10 / 5311 MEDLINE  
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[PMID]: 23949945
[Au] Autor:Schwaibold EM; Zoll B; Burfeind P; Hobbiebrunken E; Wilken B; Funke R; Shoukier M
[Ad] Address:Institute of Human Genetics, Georg August University, Göttingen, Germany.
[Ti] Title:A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.
[So] Source:Am J Med Genet A;161A(10):2634-40, 2013 Oct.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:An increasing number of patients with 3p proximal deletions were reported in the previous decade, but the region responsible for the main features such as intellectual disability (ID) and developmental delay is not yet characterized. Here we report on two monozygotic twin brothers of 2 10/12 years and an 18-year-old man, all three of them displaying severe ID, psychomotoric delay, autistic features, and only mild facial dysmorphisms. Array CGH (aCGH), revealed a 6.55 Mb de novo interstitial deletion of 3p14.1p14.3 in the twin brothers and a 4.76 Mb interstitial deletion of 3p14.1p14.2 in the 18-year-old patient, respectively. We compared the malformation spectrum with previous molecularly well-defined patients in the literature and in the DECIPHER database (Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources; http://decipher.sanger.ac.uk/). In conclusion, the deletion of a region containing 3p14.2 seems to be associated with a relative concise phenotype including ID and developmental delay. Thus, we hypothesize that 3p14.2 is the potential core region in 3p proximal deletions. The knowledge of this potential core region could be helpful in the genetic counselling of patients with 3p proximal deletions, especially concerning their phenotype.
[Mh] MeSH terms primary: Chromosome Deletion
Chromosomes, Human, Pair 3
Twins, Monozygotic/genetics
[Mh] MeSH terms secundary: Abnormalities, Multiple/diagnosis
Abnormalities, Multiple/genetics
Adolescent
Child, Preschool
Chromosome Mapping
Comparative Genomic Hybridization
Facies
Humans
Male
Phenotype
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1405
[Cu] Class update date: 140903
[Lr] Last revision date:140903
[Js] Journal subset:IM
[Da] Date of entry for processing:130930
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.36129


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