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https://www.readbyqxmd.com/read/28360400/cdkn2a-and-mc1r-variants-found-in-cypriot-patients-diagnosed-with-cutaneous-melanoma
#1
Georgia Koulermou, Christos Shammas, Andreas Vassiliou, Tassos C Kyriakides, Constantina Costi, Vassos Neocleous, Leonidas A Phylactou, Maria Pantelidou
The prevalence of genetic variants associated to cutaneous melanoma (CM) has never been determined within Cypriot melanomas. This study evaluates the frequency of variants in cyclin-dependent kinase inhibitor 2A (CDKN2A) and melanocortin-1 receptor (MC1R) in 32 patients diagnosed with CM. Other characteristics and risk factors were also assessed. CDKN2A p.Ala148Thr was detected in three of 32 patients, while the control group revealed no variations within CDKN2A. MC1R screening in 32 patients revealed the following variations: p...
March 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28360124/genetic-mutations-linked-to-parkinson-s-disease-differentially-control-nucleolar-activity-in-pre-symptomatic-mouse-models
#2
V Evsyukov, A Domanskyi, H Bierhoff, S Gispert, R Mustafa, F Schlaudraff, B Liss, R Parlato
Genetic mutations underlying neurodegenerative disorders impair ribosomal DNA (rDNA) transcription suggesting nucleolar dysfunction as a novel pathomechanism in polyglutamine diseases and in certain forms of amyotrophic lateral sclerosis/frontotemporal dementia. Here, we investigated nucleolar activity in pre-symptomatic digenic models of Parkinson's disease (PD) modeling the multifactorial etiology of this disease.To this end, we analyzed a novel mouse model mildly overexpressing the mutant human-A53T-alpha-synuclein (hA53T-SNCA/PARK1) in a PTEN-induced kinase 1 (PINK1/PARK6) knock-out background and mutant mice lacking both DJ-1/PARK7 and PINK1/PARK6...
March 30, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28327142/exome-sequencing-identified-rare-variants-in-genes-hspg2-and-atp2b4-in-a-family-segregating-developmental-dysplasia-of-the-hip
#3
Sulman Basit, Alia M Albalawi, Essa Alharby, Khalid I Khoshhal
BACKGROUND: Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28263784/putative-tmprss3-gjb2-digenic-inheritance-of-hearing-loss-detected-by-targeted-resequencing
#4
Maria Pia Leone, Pietro Palumbo, Rocco Ortore, Stefano Castellana, Orazio Palumbo, Salvatore Melchionda, Teresa Palladino, Raffaella Stallone, Tommaso Mazza, Roberto Cocchi, Massimo Carella
The paper describes a putative digenic form of deafness in two siblings affected by non-syndromic hereditary hearing loss, detected by a Targeted resequencing approach. Given that a previous paper suggested TMPRSS3 and GJB2 genes as responsible for a digenic form of hearing loss, our data support and reinforce this hypothesis.
March 3, 2017: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/28251098/digenic-heterozygous-mutations-in-eys-lrp5-in-a-chinese-family-with-retinitis-pigmentosa
#5
Feng-Juan Gao, Sheng-Hai Zhang, Jun-Yi Chen, Ge-Zhi Xu, Ji-Hong Wu
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28214896/the-genomic-landscape-of-pax5-ikzf1-and-cdkn2a-b-alterations-in-b-cell-precursor-acute-lymphoblastic-leukemia
#6
Zhishuo Ou, Maureen Sherer, Jane Casey, Heather A Bakos, Kathleen Vitullo, Jie Hu, Erika Friehling, Susanne M Gollin, Urvashi Surti, Svetlana A Yatsenko
We present a comprehensive comparison of PAX5,IKZF1, and CDKN2A/B abnormalities in 21 B-cell precursor acute lymphoblastic leukemia (B-ALL) patients studied by aCGH and gene-specific FISH assays. In our cohort of B-ALL patients, alterations of IKZF1, PAX5, and CDKN2A/B were detected by aCGH analysis in 43, 52, and 57% of samples, respectively. Deletions of IKZF1 were present in 9 samples, including 5 cases positive for both PAX5 and IKZF1 deletions, implying digenic impairment. Furthermore, all cases with IKZF1 deletions also had additional genomic alterations, including BCR-ABL1 gene fusions, PAX5 deletions, CDKN2A/B deletions, and FLT3 amplification...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28211206/variable-familial-exudative-vitreoretinopathy-in-a-family-harbouring-variants-in-both-fzd4-and-tspan12
#7
Patrik Schatz, Arif O Khan
PURPOSE: To report a family affected by familial exudative vitreoretinopathy (FEVR) in which more severe disease phenotypes segregated with digenic rather than monogenic variants in FEVR-related genes. METHODS: Phenotype was documented with high-resolution imaging of retinal structure and wide-field fundus photography. Next-generation sequencing (NGS) of known genes involved in FEVR was performed. RESULTS: Three affected individuals within a family with FEVR presented with variable disease severity...
February 16, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28177213/characterization-of-optically-and-electrically-evoked-dopamine-release-in-striatal-slices-from-digenic-knock-in-mice-with-dat-driven-expression-of-channelrhodopsin
#8
Brian O'Neill, Jyoti C Patel, Margaret E Rice
Fast-scan cyclic voltammetry (FCV) is an established method to monitor increases in extracellular dopamine (DA) concentration ([DA]o) in the striatum, which is densely innervated by DA axons. Ex vivo brain slice preparations provide an opportunity to identify endogenous modulators of DA release. For these experiments, local electrical stimulation is often used to elicit release of DA, as well as other transmitters, in the striatal microcircuitry; changes in evoked increases in [DA]o after application of a pharmacological agent (e...
February 15, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28141509/development-validation-and-testing-costs-of-an-in-house-real-time-pcr-assay-for-the-detection-of-chlamydia-trachomatis
#9
Camila Gurgel Dos Santos, Meritxell Sabidó, André Luiz Leturiondo, Cynthia de Oliveira Ferreira, Thielle Pereira da Cruz, Adele Schwartz Benzaken
PURPOSE: To improve the screening of Chlamydia trachomatis(C. trachomatis) in Brazil, an accurate and affordable method is needed. The objective of this study was to develop and assess the performance and costs of a new in-house real-time PCR (qPCR) assay for the diagnosis of C. trachomatis infection. METHODOLOGY: Asymptomatic women aged 14-25 years who attended primary health services in Manaus, Brazil, were screened for C. trachomatis using the Digene Hybrid Capture II CT-ID (HCII CT-ID) DNA test...
March 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28134085/digenic-mefv-tnfrsf1a-autoinflammatory-syndrome-with-relapsing-aseptic-neutrophilic-meningitis-and-chronic-myelitis
#10
Anne Murarasu, Catherine Dodé, Guillaume Sarrabay, Isabelle Klein, Thomas Papo, Karim Sacré
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January 26, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28125549/o-001-a-diagnostic-approach-of-immune-dysregulation-on-very-early-onset-ibd
#11
Judith Kelsen, Noor Dawany, Maire Conrad, Kathleen Sullivan, Edward Behrens, Marcella Devoto
BACKGROUND: Immune deficiencies have been associated with inflammatory bowel disease (IBD), and are reported to be particularly enriched in patients with very early-onset IBD (VEO-IBD). However, the actual frequency of primary immune deficiencies in an unselected cohort of patients with VEO-IBD is not known, nor is the optimal screening approach for this population. This study was undertaken to identify a diagnostic approach that will enhance identification of children with primary immune deficiencies who present with VEO-IBD...
February 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28053051/rom1-converts-y141c-prph2-associated-pattern-dystrophy-to-retinitis-pigmentosa
#12
Shannon M Conley, Michael W Stuck, Jamie N Watson, Muna I Naash
Mutations in peripherin 2 (PRPH2), also known as retinal degeneration slow/RDS, lead to various retinal degenerations including retinitis pigmentosa (RP) and macular/pattern dystrophy (MD/PD). PRPH2-associated disease is often characterized by a phenotypic variability even within families carrying the same mutation, raising interest in potential modifiers. PRPH2 oligomerizes with its homologue rod outer segment (OS) membrane protein 1 (ROM1), and non-pathogenic PRPH2/ROM1 mutations, when present together, lead to digenic RP...
February 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28018608/digenic-mutations-of-human-ocrl-paralogs-in-dent-s-disease-type-2-associated-with-chiari-i-malformation
#13
Daniel Duran, Sheng Chih Jin, Tyrone DeSpenza, Carol Nelson-Williams, Andrea G Cogal, Elizabeth W Abrash, Peter C Harris, John C Lieske, Serena Je Shimshak, Shrikant Mane, Kaya Bilguvar, Michael L DiLuna, Murat Günel, Richard P Lifton, Kristopher T Kahle
OCRL1 and its paralog INPP5B encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. Disease-causing mutations in INPP5B have not been described in humans. Here, we report the case of an 11-year-old boy with short stature and an above-average IQ; severe proteinuria, hypercalciuria and osteopenia resulting in a vertebral compression fracture; and Chiari I malformation with cervico-thoracic syringohydromyelia requiring suboccipital decompression...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/28012523/digenic-mutations-involving-both-the-bsnd-and-gjb2-genes-detected-in-bartter-syndrome-type-iv
#14
Hong-Han Wang, Yong Feng, Hai-Bo Li, Hong Wu, Ling-Yun Mei, Xing-Wei Wang, Lu Jiang, Chu-Feng He
Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes. To investigate the underlying mutations in a Chinese patient with Bartter syndrome type IV, genetic analysis of BSND, CLCNKA, CLCNKB and GJB2 were performed by polymerase chain reaction and direct sequencing...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27994174/evidence-of-digenic-inheritance-in-autoinflammation-associated-genes
#15
Vassos Neocleous, Stefania Byrou, Meropi Toumba, Constantina Costi, Christos Shammas, Christina Kyriakou, Violetta Christophidou-Anastasiadou, George A Tanteles, Adamos Hadjipanayis, Leonidas A Phylactou
Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence among Mediterranean populations. In a considerable number of patients with typical FMF, only one MEFV mutation was identified and the possibility that more than one autoinflammatory gene may be responsible for their disease was investigated. In the present study, an extensive search for possible mutations in three hereditary recurrent fever (HRF) genes was performed in 128 MEFV heterozygous Greek-Cypriots clinically diagnosed based on their phenotype with FMF-like disease from a previous study...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27966543/limb-girdle-myasthenia-with-digenic-rapsn-and-a-novel-disease-gene-ak9-mutations
#16
Ching-Wan Lam, Ka-Sing Wong, Ho-Wan Leung, Chun-Yiu Law
Though dysfunction of neuromuscular junction (NMJ) is associated with congenital myasthenic syndrome (CMS), the proteins involved in neuromuscular transmission have not been completely identified. In this study, we aimed to identify a novel CMS gene in a consanguineous family with limb-girdle type CMS. Homozygosity mapping of the novel CMS gene was performed using high-density single-nucleotide polymorphism microarrays. The variants in CMS gene were identified by whole-exome sequencing (WES) and Sanger sequencing...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27922500/facioscapulohumeral-muscular-dystrophy
#17
Jeffrey M Statland, Rabi Tawil
PURPOSE OF REVIEW: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). RECENT FINDINGS: FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4. Approximately 95% of patients have FSHD type 1 (FSHD1), in which loss of DNA repetitive elements (D4Z4 repeats) in the subtelomeric region of chromosome 4q causes decreased methylation and epigenetic derepression of DUX4, a gene contained within each D4Z4 repeat...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27907098/identification-of-qtl-for-fiber-quality-and-yield-traits-using-two-immortalized-backcross-populations-in-upland-cotton
#18
Hantao Wang, Cong Huang, Wenxia Zhao, Baosheng Dai, Chao Shen, Beibei Zhang, Dingguo Li, Zhongxu Lin
Two immortalized backcross populations (DHBCF1s and JMBCF1s) were developed using a recombinant inbred line (RIL) population crossed with the two parents DH962 and Jimian5 (as the males), respectively. The fiber quality and yield component traits of the two backcross populations were phenotyped at four environments (two locations, two years). One hundred seventy-eight quantitative trait loci (QTL) were detected including 76 for fiber qualities and 102 for yield components, explaining 4.08-17.79% of the phenotypic variation (PV)...
2016: PloS One
https://www.readbyqxmd.com/read/27900368/whole-exome-sequencing-reveals-an-inherited-r566x-mutation-of-the-epithelial-sodium-channel-%C3%AE-subunit-in-a-case-of-early-onset-phenotype-of-liddle-syndrome
#19
Linda M Polfus, Eric Boerwinkle, Richard A Gibbs, Ginger Metcalf, Donna Muzny, Narayanan Veeraraghavan, Megan Grove, Sanjay Shete, Stephanie Wallace, Dianna Milewicz, Neil Hanchard, James R Lupski, Syed Shahrukh Hashmi, Monesha Gupta-Malhotra
To comprehensively evaluate a European-American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hypertension was resistant to treatment, requiring a multiple drug regimen including amiloride, spironolactone, and hydrochlorothiazide. We suspected a monogenic form of hypertension because of the persistent hypokalemia with low plasma levels of renin and aldosterone. To address this, we focused on rare functional variants and indels, and performed gene-based tests incorporating linkage scores and allele frequency and filtered on deleterious functional mutations...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27894291/hpv-prevalence-in-the-dutch-cervical-cancer-screening-population-dusc-study-hpv-testing-using-automated-hc2-cobas-and-aptima-workflows
#20
Cornelis Johannes Jacobus Huijsmans, Willemina Rosalia Rita Geurts-Giele, Cindy Leeijen, Hendrikus Lambertus Cornelius Maria Hazenberg, Jenneke van Beek, Carola de Wild, Johannes Cornelis van der Linden, Adrianus Johannes Christiaan van den Brule
BACKGROUND: Primary high risk (hr)HPV screening will be introduced in The Netherlands in January 2017. Our aim was to determine the hrHPV prevalence in the Dutch cervical cancer screening population (DuSC study). METHODS: A total of 12,113 residual PreservCyt cervical samples from the Dutch population based cytology screening program were rendered anonymous, randomized and tested for hrHPV using 3 HPV assays on their respective automated platforms: QIAGEN's digene® HC2 HPV DNA Test® (HC2, signal amplification), Roche Cobas® HPV test (DNA amplification) and Hologic Aptima® HPV Test (RNA amplification)...
November 28, 2016: BMC Cancer
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