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https://www.readbyqxmd.com/read/29207974/spectrum-of-mutations-in-monogenic-diabetes-genes-identified-from-high-throughput-dna-sequencing-of-6888-individuals
#1
Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric J Topol, Thomas Seufferlein, Bernhard O Boehm
BACKGROUND: Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1-2% of all cases of diabetes. However, phenotypic heterogeneity and lack of family history of diabetes can limit the diagnosis of monogenic forms of diabetes. Next-generation sequencing technologies provide an excellent opportunity to screen large numbers of individuals with a diagnosis of diabetes for mutations in disease-associated genes...
December 6, 2017: BMC Medicine
https://www.readbyqxmd.com/read/29181843/genetic-factors-influencing-prostate-cancer-risk-in-norwegian-men
#2
Haitao Chen, Charles M Ewing, Sigun Zheng, Eli M Grindedaal, Kathleen A Cooney, Kathleen Wiley, Srdjan Djurovic, Ole A Andreassen, Karol Axcrona, Ian G Mills, Jianfeng Xu, Lovise Maehle, Sophie D Fosså, William B Isaacs
Norway has one of the highest rates of death due to prostate cancer (PCa) in the world. To assess the contribution of both common and rare single nucleotide variants (SNPs) to the prostate cancer burden in Norway, we assessed the frequency of the established prostate cancer susceptibility allele, HOXB13 G84E, as well as a series of validated, common PCa risk SNPs in a Norwegian PCa population of 779 patients. The G84E allele was observed in 2.3% of patients compared to 0.7% of control individuals, OR = 3...
November 27, 2017: Prostate
https://www.readbyqxmd.com/read/29169318/genome-wide-dna-methylation-profiling-reveals-novel-epigenetic-signatures-in-squamous-cell-lung-cancer
#3
Yuan-Xiang Shi, Ying Wang, Xi Li, Wei Zhang, Hong-Hao Zhou, Ji-Ye Yin, Zhao-Qian Liu
BACKGROUND: Epigenetic alterations are strongly associated with the development of cancer. The aim of this study was to identify epigenetic pattern in squamous cell lung cancer (LUSC) on a genome-wide scale. RESULTS: Here we performed DNA methylation profiling on 24 LUSC and paired non-tumor lung (NTL) tissues by Illumina Human Methylation 450 K BeadArrays, and identified 5214 differentially methylated probes. By integrating DNA methylation and mRNA expression data, 449 aberrantly methylated genes accompanied with altered expression were identified...
November 23, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29158444/hnf1b-controls-epithelial-organization-and-cell-polarity-during-ureteric-bud-branching-and-collecting-duct-morphogenesis
#4
Audrey Desgrange, Claire Heliot, Ilya Skovorodkin, Saad U Akram, Janne Heikkilä, Veli-Pekka Ronkainen, Ilkka Miinalainen, Seppo J Vainio, Silvia Cereghini
Kidney development depends critically on proper ureteric bud branching giving rise to the entire collecting duct system. The transcription factor HNF1B is required for the early steps of ureteric bud branching. Yet, the molecular and cellular events regulated by HNF1B are poorly understood. We report that specific removal of Hnf1b from the ureteric bud leads to defective cell-cell contacts and apico-basal polarity during the early branching events. High resolution ex vivo imaging combined with a membranous fluorescent reporter strategy show decreased mutant cell-rearrangements during mitosis-associated cell dispersal and severe epithelial disorganisation...
November 20, 2017: Development
https://www.readbyqxmd.com/read/29156765/network-directed-cis-mediator-analysis-of-normal-prostate-tissue-expression-profiles-reveals-downstream-regulatory-associations-of-prostate-cancer-susceptibility-loci
#5
Nicholas B Larson, Shannon K McDonnell, Zach Fogarty, Melissa C Larson, John Cheville, Shaun Riska, Saurabh Baheti, Alexandra M Weber, Asha A Nair, Liang Wang, Daniel O'Brien, Jaime Davila, Daniel J Schaid, Stephen N Thibodeau
Large-scale genome-wide association studies have identified multiple single-nucleotide polymorphisms associated with risk of prostate cancer. Many of these genetic variants are presumed to be regulatory in nature; however, follow-up expression quantitative trait loci (eQTL) association studies have to-date been restricted largely to cis-acting associations due to study limitations. While trans-eQTL scans suffer from high testing dimensionality, recent evidence indicates most trans-eQTL associations are mediated by cis-regulated genes, such as transcription factors...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29120028/precision-medicine-for-monogenic-diabetes-from-a-survey-to-the-development-of-a-next-generation-diagnostic-panel
#6
Sakina Kherra, Jean-Louis Blouin, Federico Santoni, Valerie Schwitzgebel
Monogenic diabetes (MD) accounts for 1-2% of all diabetes cases. Because of its wide phenotypic spectrum, MD is often misdiagnosed as type 1 or type 2 diabetes. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a survey among clinicians specialising in diabetes to document the cases with MD. Of 74 clinically suspected MD patients, 46% had undergone genetic analysis, which was mostly conducted using Sanger's classical sequencing method. The most common recorded mutations were located in the GCK gene, followed by the mitochondrial genome (m...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29113990/notch-is-required-for-the-formation-of-all-nephron-segments-and-primes-nephron-progenitors-for-differentiation
#7
Eunah Chung, Patrick Deacon, Joo-Seop Park
Notch signaling plays important roles during mammalian nephrogenesis. To investigate if Notch regulates nephron segmentation, we performed Notch loss-of-function and gain-of-function studies in developing nephrons in mice. Contrary to the previous notion that Notch signaling promotes the formation of proximal tubules and represses the formation of distal tubules in the mammalian nephron, we show that inhibition of Notch blocks the formation of all nephron segments and that constitutive activation of Notch in developing nephrons does not promote or repress the formation of a specific segment...
November 7, 2017: Development
https://www.readbyqxmd.com/read/29061586/the-promise-and-practice-of-genetics-on-diabetes-care-the-fog-rises-to-reveal-a-field-of-genetic-complexity-in-hnf1b
#8
Stephen S Rich
No abstract text is available yet for this article.
November 2017: Diabetes Care
https://www.readbyqxmd.com/read/28942246/inhibition-of-hepatocyte-nuclear-factor-1b-induces-hepatic-steatosis-through-dpp4-nox1-mediated-regulation-of-superoxide
#9
Zi Long, Meng Cao, Shuhao Su, Guangyuan Wu, Fansen Meng, Hao Wu, Jiangzheng Liu, Weihua Yu, Kamran Atabai, Xin Wang
Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disorder that is closely associated with insulin resistance and type 2 diabetes. Previous studies have suggested that hepatocyte nuclear factor 1b (HNF1b) ameliorates insulin resistance. However, the role of HNF1b in the regulation of lipid metabolism and hepatic steatosis remains poorly understood. We found that HNF1b expression was decreased in steatotic livers. We injected mice with lentivirus (LV) expressing HNF1b shRNA to generate mice with hepatic knockdown of HNF1b...
September 21, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28940454/choledochal-cyst-with-17q12-chromosomal-duplication
#10
Radana Kotalova, Petra Dusatkova, Jana Drabova, Lenka Elblova, Tomas Dedic, Ondrej Cinek, Jan Lebl, Stepanka Pruhova
The 17q12 chromosomal region carries the HNF1B gene, mutations of which cause various conditions. When searching for HNF1B/17q12 rearrangements among children with biliary atresia and/or choledochal cysts, we identified a male proband carrying a 17q12 duplication spanning 1698 kb that included 24 genes from TBC1D3C to HNF1B. The boy presented with cholestatic jaundice at the age of 2 weeks due to a choledochal cyst sized 15 ×12 mm (type Ia according to the Todani classification). He underwent a shunt surgery consisting of a hepaticojejunostomy using Roux-en-Y loop at the age of 2 months, which led to a permanent relief of cholestasis...
September 22, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28881510/-clinical-phenotypes-of-hepatocyte-nuclear-factor-1-homeobox-b-associated-disease
#11
F Wang, Y Yao, H X Yang, C Y Shi, X X Zhang, H J Xiao, H W Zhang, B G Su, Y Q Zhang, J F Guo, J Ding
Objective: Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder. Method: Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study...
September 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28864900/expression-of-master-regulatory-genes-of-embryonic-development-in-pancreatic-tumors
#12
L G Kondratyeva, I P Chernov, M V Zinovyeva, E P Kopantzev, E D Sverdlov
The expression level of some important master regulators of embryonic development of the pancreas in the tumor samples of this human organ was determined. We found that the transcription of SOX9, GATA4, PDX1, PTF1a, and HNF1b genes in the tumor samples was reduced as compared to the samples of normal pancreatic tissues, and the KLF5 gene expression in the tumor cells was elevated. We assume that all the studied genes, except KLF5, form a single regulatory module that supports the identity of tumor progenitor cells...
July 2017: Doklady. Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28862987/mody-in-ukraine-genes-clinical-phenotypes-and-treatment
#13
Evgenia Globa, Nataliya Zelinska, Lenka Elblova, Petra Dusatkova, Ondrej Cinek, Jan Lebl, Kevin Colclough, Sian Ellard, Stepanka Pruhova
BACKGROUND: Maturity-onset diabetes of the young (MODY) has not been previously studied in Ukraine. We investigated the genetic etiology in a selected cohort of patients with diabetes diagnosed before 18 years of age, and in their family members. METHODS: Genetic testing of the most prevalent MODY genes (GCK, HNF1A, HNF4A, HNF1B and INS) was undertaken for 36 families (39 affected individuals) by Sanger or targeted next generation sequencing. RESULTS: A genetic diagnosis of MODY was made in 15/39 affected individuals from 12/36 families (33%)...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28841204/from-waldenstr%C3%A3-m-s-macroglobulinemia-to-aggressive-diffuse-large-b-cell-lymphoma-a-whole-exome-analysis-of-abnormalities-leading-to-transformation
#14
C Jiménez, S Alonso-Álvarez, M Alcoceba, G R Ordóñez, M García-Álvarez, M I Prieto-Conde, M C Chillón, A Balanzategui, R Corral, L A Marín, N C Gutiérrez, N Puig, M E Sarasquete, M González, R García-Sanz
Transformation of Waldenström's macroglobulinemia (WM) to diffuse large B-cell lymphoma (DLBCL) occurs in up to 10% of patients and is associated with an adverse outcome. Here we performed the first whole-exome sequencing study of WM patients who evolved to DLBCL and report the genetic alterations that may drive this process. Our results demonstrate that transformation depends on the frequency and specificity of acquired variants, rather than on the duration of its evolution. We did not find a common pattern of mutations at diagnosis or transformation; however, there were certain abnormalities that were present in a high proportion of clonal tumor cells and conserved during this transition, suggesting that they have a key role as early drivers...
August 25, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28807937/hnf1b-loss-exacerbates-the-development-of-chromophobe-renal-cell-carcinomas
#15
Mianen Sun, Pan Tong, Wen Kong, Baijun Dong, Yiran Huang, In Young Park, Lijun Zhou, Xian-De Liu, Zhiyong Ding, Xuesong Zhang, Shanshan Bai, Peter German, Reid Powell, Quan Wang, Xuefei Tong, Nizar M Tannir, Surena F Matin, W Kimryn Rathmell, Gregory N Fuller, Ian E McCutcheon, Cheryl L Walker, Jing Wang, Eric Jonasch
Chromophobe renal cell carcinoma (ChRCC) is characterized by major changes in chromosomal copy number (CN). No model is available to precisely elucidate the molecular drivers of this tumor type. HNF1B is a master regulator of gene expression. Here, we report that the transcription factor HNF1B is downregulated in the majority of ChRCC and that the magnitude of HNF1B loss is unique to ChRCC. We also observed a strong correlation between reduced HNF1B expression and aneuploidy in ChRCC patients. In murine embryonic fibroblasts or ACHN cells, HNF1B deficiency reduced expression of the spindle checkpoint proteins MAD2L1 and BUB1B, and the cell-cycle checkpoint proteins RB1 and p27...
October 1, 2017: Cancer Research
https://www.readbyqxmd.com/read/28804623/recent-advances-in-the-molecular-mechanisms-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#16
Keiko Watanabe, Yusuke Kobayashi, Kouji Banno, Yusuke Matoba, Haruko Kunitomi, Kanako Nakamura, Masataka Adachi, Kiyoko Umene, Iori Kisu, Eiichiro Tominaga, Daisuke Aoki
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a disease caused by congenital absence of the uterus and two-thirds of the upper vagina. The pathogenic mechanism of MRKHS may involve gene abnormalities, and there are various case reports associating MRKHS with the Wnt family member 4 (Wnt4) mutation. Analysis of genes mapped to regions in which deletion and duplication are frequently detected in patients with MRKHS has shown involvement of LIM homeobox 1 (LHX1), HNF1 homeobox B (HNF1B) and T-box 6 (TBX6)...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28794155/microrna-125b-is-a-key-epigenetic-regulatory-factor-that-promotes-nuclear-transfer-reprogramming
#17
Jingcheng Zhang, Pengxiang Qu, Chuan Zhou, Xin Liu, Xiaonan Ma, Mengyun Wang, Yongsheng Wang, Jianmin Su, Jun Liu, Yong Zhang
Somatic cell nuclear transfer (SCNT)-mediated reprogramming is a rapid, efficient, and sophisticated process that reprograms differentiated somatic cells to a pluripotent state. However, many factors in this elaborate reprogramming process remain largely unknown. Here, we report that the microRNA (miR) miR-125b is an important component of SCNT-mediated reprogramming. Luciferase reporter assay, quantitative PCR, and Western blotting demonstrated that miR-125b directly binds the 3'-untranslated region of SUV39H1, encoding the histone-lysine N-methyltransferase SUV39H1, to down-regulate histone H3 lysine-9 tri-methylation (H3K9me3) in SCNT embryos...
September 22, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28766492/mody3-renal-cysts-and-dandy-walker-variants-with-a-microdeletion-spanning-the-hnf1a-gene
#18
Hiro Matsukura, Mariko Nagamori, Kazushi Miya, Tohru Yorifuji
Heterozygous hepatocyte nuclear factor-1-α gene (<italic>HNF1A</italic>) mutations are the most common cause of maturity-onset diabetes of the young (MODY), but they rarely involve extrahepatic manifestations. Renal cysts and diabetes syndrome can be caused by <italic>HNF1B</italic> mutations. No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations. In a Japanese girl with glycosuria, developmental delay, mental retardation, renal cysts, and DWV, the <italic>HNF1B</italic> gene had no mutations...
September 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28739648/hepatocyte-nuclear-factor-1%C3%AE-controls-mitochondrial-respiration-in-renal-tubular-cells
#19
Audrey Casemayou, Audren Fournel, Alessia Bagattin, Joost Schanstra, Julie Belliere, Stéphane Decramer, Dimitri Marsal, Marion Gillet, Nicolas Chassaing, Antoine Huart, Marco Pontoglio, Claude Knauf, Jean-Loup Bascands, Dominique Chauveau, Stanislas Faguer
AKI is a frequent condition that involves renal microcirculation impairment, infiltration of inflammatory cells with local production of proinflammatory cytokines, and subsequent epithelial disorders and mitochondrial dysfunction. Peroxisome proliferator-activated receptor γ coactivator 1-α (PPARGC1A), a coactivator of the transcription factor PPAR-γ that controls mitochondrial biogenesis and function, has a pivotal role in the early dysfunction of the proximal tubule and the subsequent renal repair. Here, we evaluated the potential role of hepatocyte nuclear factor-1β (HNF-1β) in regulating PPARGC1A expression in AKI...
November 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28737528/genetic-variants-of-increased-waist-circumference-in-psychosis
#20
Dzana S Hukic, Urban Ösby, Eric Olsson, Agneta Hilding, Claes-Göran Östenson, Harvest F Gu, Ewa Ehrenborg, Gunnar Edman, Martin Schalling, Catharina Lavebratt, Louise Frisén
OBJECTIVE: We examined whether established metabolic risk genetic variants in the population confer a risk for increased waist circumference in patients with schizophrenia spectrum disorders and also an association with schizophrenia spectrum disorders irrespective of waist circumference. PATIENTS AND METHODS: We analyzed the association in (i) a case-case model in which patients with schizophrenia spectrum disorder with increased waist circumference (≥80 cm for women and ≥94 cm for men) (n=534) were compared with patients with normal waist circumference (<80 cm for women; <94 cm for men) (n=124), and in (ii) a case-control model in which schizophrenia spectrum disorder patients with increased waist circumference or irrespective of waist circumference were compared with population-derived controls (n=494) adjusted for age, sex, fasting glucose, smoking, and family history of diabetes...
December 2017: Psychiatric Genetics
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