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HNF1B

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https://www.readbyqxmd.com/read/28440405/copy-number-variation-analysis-in-familial-nonsyndromic-congenital-anomalies-of-the-kidney-and-urinary-tract-evidence-for-the-causative-role-of-a-transposable-element-associated-genomic-rearrangement
#1
Ekaterini Siomou, Artemis G Mitsioni, Vasileios Giapros, Ioanna Bouba, Dimitrios Noutsopoulos, Ioannis Georgiou
Most congenital anomalies of the kidney and urinary tract (CAKUT) are sporadic, but familial occurrence has been described, suggesting a genetic contribution. Copy‑number variations (CNVs) were detected in patients with CAKUT to identify possible novel genomic regions associated with CAKUT. CNVs were investigated in 7 children with CAKUT from three unrelated families using array comparative genomic hybridization: female monozygotic twins with bilateral duplex collecting system/vesicoureteral reflux (VUR)/unilateral renal hypodyspasia (URHD); two male siblings with VUR/URHD; 3 male second cousins, one with bilateral VUR/URHD, one with bilateral VUR and one with ureterovesical junction obstruction (UVJO)...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28420700/diabetes-associated-clinical-spectrum-long-term-prognosis-and-genotype-phenotype-correlations-in-201-adult-patients-with-hepatocyte-nuclear-factor-1-b-hnf1b-molecular-defects
#2
Danièle Dubois-Laforgue, Erika Cornu, Cécile Saint-Martin, Joël Coste, Christine Bellanné-Chantelot, José Timsit
OBJECTIVE: Molecular defects of hepatocyte nuclear factor 1B (HNF1B) are associated with a multiorgan disease, including diabetes (maturity-onset diabetes of the young 5) and kidney abnormalities. The HNF1B-syndrome is related to HNF1B mutations or to a 17q12 deletion spanning 15 genes, including HNF1B. Here, we described HNF1B-related diabetes and associated phenotypes and assessed genotype/phenotype correlations at diagnosis and in the long-term. RESEARCH DESIGN AND METHODS: This multicenter retrospective cohort study included 201 patients, aged 18 or older at follow-up, with HNF1B mutations (n = 101) or deletion (n = 100)...
April 18, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28409341/zebrafish-pronephros-development
#3
Richard W Naylor, Sarah S Qubisi, Alan J Davidson
The pronephros is the first kidney type to form in vertebrate embryos. The first step of pronephrogenesis in the zebrafish is the formation of the intermediate mesoderm during gastrulation, which occurs in response to secreted morphogens such as BMPs and Nodals. Patterning of the intermediate mesoderm into proximal and distal cell fates is induced by retinoic acid signaling with downstream transcription factors including wt1a, pax2a, pax8, hnf1b, sim1a, mecom, and irx3b. In the anterior intermediate mesoderm, progenitors of the glomerular blood filter migrate and fuse at the midline and recruit a blood supply...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28387813/whole-exome-sequencing-for-prenatal-diagnosis-of-fetuses-with-congenital-anomalies-of-the-kidney-and-urinary-tract
#4
Ting-Ying Lei, Fang Fu, Ru Li, Dan Wang, Rong-Yue Wang, Xiang-Yi Jing, Qiong Deng, Zhou-Zhou Li, Ze-Qun Liu, Xin Yang, Dong-Zhi Li, Can Liao
Background.: In the absence of cytogenetic abnormality, fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with/without other structural anomalies show a higher likelihood of monogenic causes; however, defining the underlying pathology can be challenging. Here, we investigate the value of whole-exome sequencing (WES) in fetuses with CAKUT but normal findings upon karyotyping and chromosome microarray analysis. Methods.: WES was performed on DNA from the cord blood of 30 fetuses with unexplained CAKUT with/without other structural anomalies...
April 6, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28324003/biliary-anomalies-in-patients-with-hnf1b-diabetes
#5
Jarno Lt Kettunen, Helka Parviainen, Päivi J Miettinen, Martti Färkkilä, Marjo Tamminen, Pia Salonen, Eila Lantto, Tiinamaija Tuomi
Context: The clinical spectrum of organogenetic anomalies associated with HNF1B mutations is heterogeneous. Besides cystic kidney disease, diabetes, and various other manifestations, odd cases of mainly neonatal and post-transplant cholestasis have been described. The biliary phenotype is incompletely defined. Objective: To systematically characterize HNF1B-related anomalies in the bile ducts by imaging with MRI or MRCP. Setting and Patients: Fourteen patients with HNF1B mutations in the catchment area of the Helsinki University hospital were evaluated with upper abdominal MRI and MRCP...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28285191/polychlorinated-biphenyls-153-induces-metabolic-dysfunction-through-activation-of-ros-nf-%C3%AE%C2%BAb-signaling-via-downregulation-of-hnf1b
#6
Hao Wu, Weihua Yu, Fansen Meng, Jie Mi, Jie Peng, Jiangzheng Liu, Xiaodi Zhang, Chunxu Hai, Xin Wang
Polychlorinated biphenyls (PCB) is a major type of persistent organic pollutants (POPs) that act as endocrine-disrupting chemicals. In the current study, we examined the mechanism underlying the effect of PCB-153 on glucose and lipid metabolism in vivo and in vitro. We found that PCB-153 induced per se and worsened high fat diet (HFD)-resulted increase of blood glucose level and glucose and insulin intolerance. In addition, PCB-153 induced per se and worsened HFD-resulted increase of triglyceride content and adipose mass...
March 7, 2017: Redox Biology
https://www.readbyqxmd.com/read/28274157/hnf1b-tspan8-and-notch2-gene-polymorphisms-in-women-with-gestational-diabetes
#7
Maciej Tarnowski, Damian Malinowski, Krzysztof Safranow, Violetta Dziedziejko, Andrzej Pawlik
PURPOSE: To investigate genes involved in pancreatic beta cell function, insulin production and glucose metabolism that may predispose to gestational diabetes mellitus (GDM). METHODS: The study group consisted of 204 women with GDM and 207 women with normal glucose tolerance (NGT). The following polymorphisms were genotyped for each patient: HNF1B rs4430796, TSPAN8 rs7961581 and NOTCH2 rs10923931. A p value of <.05 was considered to indicate a statistically significant result...
March 8, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28251383/diagnostic-strategy-for-inherited-hypomagnesemia
#8
Tomoko Horinouchi, Kandai Nozu, Naohiro Kamiyoshi, Koichi Kamei, Hiroko Togawa, Yuko Shima, Yoshimichi Urahama, Tomohiko Yamamura, Shogo Minamikawa, Keita Nakanishi, Junya Fujimura, Ichiro Morioka, Takeshi Ninchoji, Hiroshi Kaito, Koichi Nakanishi, Kazumoto Iijima
BACKGROUND: Hereditary hypomagnesemia is difficult to diagnose accurately because of its rarity and the variety of causative genes. We established a flowchart for identifying responsible genes for hypomagnesemia, and we confirmed its diagnostic efficacy in patients with suspected inherited hypomagnesemia. METHODS: We established a flowchart and applied it to five index cases with suspected inherited hypomagnesemia. Direct sequence analysis was used to detect the causative gene variants in four cases, and targeted sequencing analysis using next-generation sequencing (NGS) of all causative genes for hypomagnesemia was used in one...
March 1, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/28241454/next-generation-sequencing-approach-in-methylation-analysis-of-hnf1b-and-gata4-genes-searching-for-biomarkers-in-ovarian-cancer
#9
Ivana Bubancova, Helena Kovarikova, Jan Laco, Ema Ruszova, Ondrej Dvorak, Vladimir Palicka, Marcela Chmelarova
DNA methylation is well-known to be associated with ovarian cancer (OC) and has great potential to serve as a biomarker in monitoring response to therapy and for disease screening. The purpose of this study was to investigate methylation of HNF1B and GATA4 and correlate detected methylation with clinicopathological characteristic of OC patients. The study group consisted of 64 patients with OC and 35 control patients. To determine the most important sites of HNF1B and GATA4, we used next-generation sequencing...
February 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28215227/elucidating-the-mutational-landscape-in-hepatocyte-nuclear-factor-1%C3%AE-hnf1b-by-computational-approach
#10
P Sneha, C G P Doss
Transcription factors are the major gene-regulatory proteins that recognize specific nucleotide sequences and bind to them. Missense mutations in transcription factors play a significant role in misregulation of gene expression contributing to various diseases and disorders. Understanding their structural and functional impact of the disease-causing mutations becomes prime importance in treating a disease. Commonly associated defect with the mutations of hepatocyte nuclear factor 1 beta (HNF1B) protein, a transcription factor results in maturity-onset diabetes of the young-5 (MODY-5) leading to loss of function...
2017: Advances in Protein Chemistry and Structural Biology
https://www.readbyqxmd.com/read/28214017/genetic-risk-factors-for-ovarian-cancer-and-their-role-for-endometriosis-risk
#11
Stefanie Burghaus, Peter A Fasching, Lothar Häberle, Matthias Rübner, Kathrin Büchner, Simon Blum, Anne Engel, Arif B Ekici, Arndt Hartmann, Alexander Hein, Matthias W Beckmann, Stefan P Renner
OBJECTIVE: Several genetic variants have been validated as risk factors for ovarian cancer. Endometriosis has also been described as a risk factor for ovarian cancer. Identifying genetic risk factors that are common to the two diseases might help improve our understanding of the molecular pathogenesis potentially linking the two conditions. METHODS: In a hospital-based case-control analysis, 12 single nucleotide polymorphisms (SNPs), validated by the Ovarian Cancer Association Consortium (OCAC) and the Collaborative Oncological Gene-environment Study (COGS) project, were genotyped using TaqMan® OpenArray™ analysis...
April 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28152181/purification-of-definitive-endoderm-generated-from-pluripotent-stem-cells-by-magnetic-cell-sorting
#12
Ulf Diekmann, Claudia Davenport, Jasmin Kresse, Ortwin Naujok
Pluripotent stem cells have the capability to differentiate into any somatic cell type of the human body. The generation of surrogate cells for the treatment of liver, lung, and pancreatic diseases is of great medical interest. First, the in vitro formation into cells of the definitive endoderm is required. Upon commitment into this lineage, the cells express transcription factors such as FOXA2, SOX17, HNF1B; GATA family members; and the surface protein CXCR4. Unfortunately, some pluripotent stem cells resist the differentiation and contaminate the culture...
February 2, 2017: Current Protocols in Stem Cell Biology
https://www.readbyqxmd.com/read/28040137/prenatal-diagnosis-of-familial-transmission-of-17q12-microduplication-associated-with-no-apparent-phenotypic-abnormality
#13
Chih-Ping Chen, Chung-Hu Fu, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis of familial transmission of 17q12 duplication associated with no apparent phenotypic abnormality. CASE REPORT: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Array comparative genomic hybridization of uncultured amniocytes revealed a 1.42-Mb duplication of 17q12 or arr 17q12 (34,822,465-36,243,365) × 3 encompassing 12 Online Mendelian Inheritance in Man (OMIM) genes including LHX1, ACACA, and HNF1B...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27913849/targeted-next-generation-sequencing-reveals-mody-in-up-to-6-5-of-antibody-negative-diabetes-cases-listed-in-the-norwegian-childhood-diabetes-registry
#14
Bente B Johansson, Henrik U Irgens, Janne Molnes, Paweł Sztromwasser, Ingvild Aukrust, Petur B Juliusson, Oddmund Søvik, Shawn Levy, Torild Skrivarhaug, Geir Joner, Anders Molven, Stefan Johansson, Pål R Njølstad
AIMS/HYPOTHESIS: MODY can be wrongly diagnosed as type 1 diabetes in children. We aimed to find the prevalence of MODY in a nationwide population-based registry of childhood diabetes. METHODS: Using next-generation sequencing, we screened the HNF1A, HNF4A, HNF1B, GCK and INS genes in all 469 children (12.1%) negative for both GAD and IA-2 autoantibodies and 469 antibody-positive matched controls selected from the Norwegian Childhood Diabetes Registry (3882 children)...
December 2, 2016: Diabetologia
https://www.readbyqxmd.com/read/27899771/-perspectives-of-individualized-treatment-by-genome-wide-analyses-in-ovarian-cancer
#15
Noriomi Matsumura, Ken Yamaguchi, Ryusuke Murakami, Masaki Mandai, Ikuo Konishi
Genome-wide analyses have recently been reported for ovarian cancer. High-grade serous ovarian carcinoma(HGSOC) almost exclusively harbor TP53 mutations and prominent copy number aberrations. Approximately 20% of HGSOCs harbor BRCA mutations, in which case PARP inhibitors may be effective. HGSOCs are classified into 4 molecular subtypes with distinct histopathological features by transcriptional profiling. These subtypes differ in prognosis and drug sensitivity. Additionally, a whole-genome analysis for HGSOC has revealed various factors that can induce resistance to chemotherapy...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/27820600/direct-reprogramming-of-fibroblasts-into-renal-tubular-epithelial-cells-by-defined-transcription-factors
#16
Michael M Kaminski, Jelena Tosic, Catena Kresbach, Hannes Engel, Jonas Klockenbusch, Anna-Lena Müller, Roman Pichler, Florian Grahammer, Oliver Kretz, Tobias B Huber, Gerd Walz, Sebastian J Arnold, Soeren S Lienkamp
Direct reprogramming by forced expression of transcription factors can convert one cell type into another. Thus, desired cell types can be generated bypassing pluripotency. However, direct reprogramming towards renal cells remains an unmet challenge. Here, we identify renal cell fate-inducing factors on the basis of their tissue specificity and evolutionarily conserved expression, and demonstrate that combined expression of Emx2, Hnf1b, Hnf4a and Pax8 converts mouse and human fibroblasts into induced renal tubular epithelial cells (iRECs)...
December 2016: Nature Cell Biology
https://www.readbyqxmd.com/read/27732966/hnf1b-variants-associate-with-promoter-methylation-and-regulate-gene-networks-activated-in-prostate-and-ovarian-cancer
#17
Helen Ross-Adams, Stephen Ball, Kate Lawrenson, Silvia Halim, Roslin Russell, Claire Wells, Siri H Strand, Torben F Ørntoft, Melissa Larson, Sebastian Armasu, Charles E Massie, Mohammad Asim, Martin M Mortensen, Michael Borre, Kathryn Woodfine, Anne Y Warren, Alastair D Lamb, Jonathan Kay, Hayley Whitaker, Antonio Ramos-Montoya, Adele Murrell, Karina D Sørensen, Brooke L Fridley, Ellen L Goode, Simon A Gayther, John Masters, David E Neal, Ian G Mills
Two independent regions within HNF1B are consistently identified in prostate and ovarian cancer genome-wide association studies (GWAS); their functional roles are unclear. We link prostate cancer (PC) risk SNPs rs11649743 and rs3760511 with elevated HNF1B gene expression and allele-specific epigenetic silencing, and outline a mechanism by which common risk variants could effect functional changes that increase disease risk: functional assays suggest that HNF1B is a pro-differentiation factor that suppresses epithelial-to-mesenchymal transition (EMT) in unmethylated, healthy tissues...
November 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/27615128/the-role-of-hepatocyte-nuclear-factor-1%C3%AE-in-disease-and-development
#18
REVIEW
R El-Khairi, L Vallier
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1β (HNF1B) result in a multi-system disorder. HNF1B was initially discovered as a monogenic diabetes gene; however, renal cysts are the most frequently detected feature. Other clinical features include pancreatic hypoplasia and exocrine insufficiency, genital tract malformations, abnormal liver function, cholestasis and early-onset gout. Heterozygous mutations and complete gene deletions in HNF1B each account for approximately 50% of all cases of HNF1B-associated disease and may show autosomal dominant inheritance or arise spontaneously...
September 2016: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/27599506/downregulation-of-expression-of-mater-genes-sox9-foxa2-and-gata4-in-pancreatic-cancer-cells-stimulated-with-tgf%C3%AE-1-epithelial-mesenchymal-transition
#19
L G Kondratyeva, A A Sveshnikova, E V Grankina, I P Chernov, M R Kopantseva, E P Kopantzev, E D Sverdlov
We show characteristic morphological changes corresponding to epithelial-mesenchymal transition (EMT) program fulfillment in PANC1 cell line stimulated with TGFβ1. Our results support downregulation of E-cadherin protein. We show 5- and 28-fold increase in SNAI1 and SNAI2 expression levels and 25- and 15-fold decrease in CDH1 and KRT8 expression levels, respectively, which confirms the EMT-program fulfillment. We demonstrate downregulation of expression of pancreatic master genes SOX9, FOXA2, and GATA4 (2-, 5-, and 4-fold, respectively) and absence of significant changes in HES1, NR5A2, and GATA6 expression levels in the cells stimulated with TGFβ1...
July 2016: Doklady. Biochemistry and Biophysics
https://www.readbyqxmd.com/read/27468355/pancreatic-developmental-defect-evaluated-by-celiac-artery-angiography-in-a-patient-with-mody5
#20
Naoko Iwasaki, Masashi Tsurumi, Kuniya Asai, Wataru Shimuzu, Atsushi Watanabe, Makiko Ogata, Miho Takizawa, Risa Ide, Toshiyuki Yamamoto, Kayoko Saito
The hepatocyte nuclear factor 1β gene (HNF1B) is responsible for maturity-onset diabetes of the young type 5 (MODY5), which is characterized by early-onset diabetes mellitus and urogenital malformations. HNF1B is expressed during visceral endoderm formation. We identified a disruption of the great pancreatic artery in a patient with MODY5 with no pancreatic body or tail. Our finding supports the significance of HNF1B in the development of the pancreas.
2016: Human Genome Variation
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