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https://www.readbyqxmd.com/read/28915117/molecular-genetic-and-clinical-delineation-of-22-patients-with-congenital-hypogonadotropic-hypogonadism
#1
Kohei Aoyama, Haruo Mizuno, Tatsushi Tanaka, Takao Togawa, Yutaka Negishi, Kei Ohashi, Ikumi Hori, Masako Izawa, Takashi Hamajima, Shinji Saitoh
BACKGROUND: Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH. METHODS: We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing. RESULTS: We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation in ANOS1 (X-linked recessive); three and four having a mutation in FGFR1 and CHD7, respectively (autosomal dominant); and one having two TACR3 mutations (autosomal recessive)...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28904385/rapid-discovery-of-de-novo-deleterious-mutations-in-cattle-enhances-the-value-of-livestock-as-model-species
#2
E Bourneuf, P Otz, H Pausch, V Jagannathan, P Michot, C Grohs, G Piton, S Ammermüller, M-C Deloche, S Fritz, H Leclerc, C Péchoux, A Boukadiri, C Hozé, R Saintilan, F Créchet, M Mosca, D Segelke, F Guillaume, S Bouet, A Baur, A Vasilescu, L Genestout, A Thomas, A Allais-Bonnet, D Rocha, M-A Colle, C Klopp, D Esquerré, C Wurmser, K Flisikowski, H Schwarzenbacher, J Burgstaller, M Brügmann, E Dietschi, N Rudolph, M Freick, S Barbey, G Fayolle, C Danchin-Burge, L Schibler, B Bed'Hom, B J Hayes, H D Daetwyler, R Fries, D Boichard, D Pin, C Drögemüller, A Capitan
In humans, the clinical and molecular characterization of sporadic syndromes is often hindered by the small number of patients and the difficulty in developing animal models for severe dominant conditions. Here we show that the availability of large data sets of whole-genome sequences, high-density SNP chip genotypes and extensive recording of phenotype offers an unprecedented opportunity to quickly dissect the genetic architecture of severe dominant conditions in livestock. We report on the identification of seven dominant de novo mutations in CHD7, COL1A1, COL2A1, COPA, and MITF and exploit the structure of cattle populations to describe their clinical consequences and map modifier loci...
September 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28886413/maternal-residential-air-pollution-and-placental-imprinted-gene-expression
#3
Samantha L Kingsley, Maya A Deyssenroth, Karl T Kelsey, Yara Abu Awad, Itai Kloog, Joel D Schwartz, Luca Lambertini, Jia Chen, Carmen J Marsit, Gregory A Wellenius
BACKGROUND: Maternal exposure to air pollution is associated with reduced fetal growth, but its relationship with expression of placental imprinted genes (important regulators of fetal growth) has not yet been studied. OBJECTIVES: To examine relationships between maternal residential air pollution and expression of placental imprinted genes in the Rhode Island Child Health Study (RICHS). METHODS: Women-infant pairs were enrolled following delivery between 2009 and 2013...
September 5, 2017: Environment International
https://www.readbyqxmd.com/read/28833369/clinical-and-genetic-features-of-64-young-male-paediatric-patients-with-congenital-hypogonadotropic-hypogonadism-chh
#4
Yi Wang, Chunxiu Gong, Miao Qin, Ying Liu, Yuanyuan Tian
CONTEXT: The diagnosis of congenital hypogonadotropic hypogonadism (CHH) in prepuberty has always been challenging. Here, we aimed at studying the clinical and genetic features of paediatric CHH, especially the phenotype of hypospadias and dual defects (patients showing hypothalamic and/or pituitary defects and testicular hypoplasia), so as to have a better understanding of CHH. DESIGN: The clinical and genetic features of CHH patients were analysed and the relationships between hypospadias, dual defects and genetics investigated...
August 20, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28676412/identification-of-circular-rnas-with-host-gene-independent-expression-in-human-model-systems-for-cardiac-differentiation-and-disease
#5
D Siede, K Rapti, A A Gorska, H A Katus, J Altmüller, J N Boeckel, B Meder, C Maack, M Völkers, O J Müller, J Backs, C Dieterich
AIMS: Cardiovascular disease, one of the most common causes of death in western populations, is characterized by changes in RNA splicing and expression. Circular RNAs (circRNA) originate from back-splicing events, which link a downstream 5' splice site to an upstream 3' splice site. Several back-splicing junctions (BSJ) have been described in heart biopsies from human, rat and mouse hearts (Werfel et al., 2016; Jakobi et al., 2016 ). Here, we use human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) to identify circRNA and host gene dynamics in cardiac development and disease...
August 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28649742/genotranscriptomic-meta-analysis-of-the-chd-family-chromatin-remodelers-in-human-cancers-initial-evidence-of-an-oncogenic-role-for-chd7
#6
Xiaofang Chu, Xuhui Guo, Yuanyuan Jiang, Huimei Yu, Lanxin Liu, Wenqi Shan, Zeng-Quan Yang
Chromodomain helicase DNA binding proteins (CHD) are characterized by N-terminal tandem chromodomains and a central ATP-dependent helicase domain. CHDs govern the cellular machinery's access to DNA, thereby playing critical roles in various cellular processes including transcription, proliferation, and DNA damage repair. Accumulating evidence demonstrates that mutation and dysregulation of CHDs are implicated in the pathogenesis of developmental disorders and cancer. However, we know little about genomic and transcriptomic alterations and the clinical significance of most CHDs in human cancer...
June 26, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28616537/congenital-arch-vessel-anomalies-in-charge-syndrome-a-frequent-feature-with-risk-for-co-morbidity
#7
Nicole Corsten-Janssen, Conny M A van Ravenswaaij-Arts, Livia Kapusta
BACKGROUND: CHARGE syndrome is a complex multiple congenital malformation disorder with variable expression that is caused by mutations in the CHD7 gene. Variable heart defects occur in 74% of patients with a CHD7 mutation, with an overrepresentation of atrioventricular septal defects and conotruncal defects - including arch vessel anomalies. METHODS AND RESULTS: We report an index patient with an arch vessel anomaly underlying serious feeding problems that resolved after arch vessel surgery...
September 2016: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/28609304/suprameatal-cochlear-implantation-in-a-charge-patient-with-a-novel-chd7-variant-and-kallmann-syndrome-phenotype-a-case-report
#8
Akira Ganaha, Tetsuya Tono, Tadashi Kaname, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Hiroyuki Maeda, Mikio Suzuki
OBJECTIVE: We present the clinical findings, technique of the suprameatal cochlear implantation, postoperative auditory results, and genetic analysis of the CHD7 gene. PATIENT: A 19-year-old Japanese woman was referred because of progressive hearing loss since early childhood. She had used verbal language for the main mode of communication until the age of 17. Examination revealed coloboma, heart defect, choanal atresia, genital hypoplasia, and deafness, which was diagnosed as CHARGE syndrome...
August 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28533432/the-atp-dependent-chromatin-remodeling-enzymes-chd6-chd7-and-chd8-exhibit-distinct-nucleosome-binding-and-remodeling-activities
#9
COMPARATIVE STUDY
Benjamin J Manning, Timur Yusufzai
Proper chromatin regulation is central to genome function and maintenance. The group III chromodomain-helicase-DNA-binding (CHD) family of ATP-dependent chromatin remodeling enzymes, comprising CHD6, CHD7, CHD8, and CHD9, has well-documented roles in transcription regulation, impacting both organism development and disease etiology. These four enzymes are similar in their constituent domains, but they fill surprisingly non-redundant roles in the cell, with deficiencies in individual enzymes leading to dissimilar disease states such as CHARGE syndrome or autism spectrum disorders...
July 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28475860/charge-and-kabuki-syndromes-gene-specific-dna-methylation-signatures-identify-epigenetic-mechanisms-linking-these-clinically-overlapping-conditions
#10
Darci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, Michelle T Siu, Michal Inbar-Feigenberg, Roberto Mendoza-Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu, Lucie Dupuis, Daria Grafodatskaya, William Reardon, Brigitte Gilbert-Dussardier, Alain Verloes, Frederic Bilan, Jeff M Milunsky, Raveen Basran, Blake Papsin, Tracy L Stockley, Stephen W Scherer, Sanaa Choufani, Michael Brudno, Rosanna Weksberg
Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-binding protein 7 (CHD7(LOF)) and lysine (K) methyltransferase 2D (KMT2D(LOF)), respectively. Although these two syndromes are clinically distinct, there is significant phenotypic overlap. We therefore expected that epigenetically driven developmental pathways regulated by CHD7 and KMT2D would overlap and that DNA methylation (DNAm) alterations downstream of the mutations in these genes would identify common target genes, elucidating a mechanistic link between these two conditions, as well as specific target genes for each disorder...
May 4, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28317875/chd7-is-indispensable-for-mammalian-brain-development-through-activation-of-a-neuronal-differentiation-programme
#11
Weijun Feng, Daisuke Kawauchi, Huiqin Körkel-Qu, Huan Deng, Elisabeth Serger, Laura Sieber, Jenna Ariel Lieberman, Silvia Jimeno-González, Sander Lambo, Bola S Hanna, Yassin Harim, Malin Jansen, Anna Neuerburg, Olga Friesen, Marc Zuckermann, Vijayanad Rajendran, Jan Gronych, Olivier Ayrault, Andrey Korshunov, David T W Jones, Marcel Kool, Paul A Northcott, Peter Lichter, Felipe Cortés-Ledesma, Stefan M Pfister, Hai-Kun Liu
Mutations in chromatin modifier genes are frequently associated with neurodevelopmental diseases. We herein demonstrate that the chromodomain helicase DNA-binding protein 7 (Chd7), frequently associated with CHARGE syndrome, is indispensable for normal cerebellar development. Genetic inactivation of Chd7 in cerebellar granule neuron progenitors leads to cerebellar hypoplasia in mice, due to the impairment of granule neuron differentiation, induction of apoptosis and abnormal localization of Purkinje cells, which closely recapitulates known clinical features in the cerebella of CHARGE patients...
March 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28280001/a-rapid-and-effective-method-for-screening-sequencing-and-reporter-verification-of-engineered-frameshift-mutations-in-zebrafish
#12
Sergey V Prykhozhij, Shelby L Steele, Babak Razaghi, Jason N Berman
Clustered regularly interspaced palindromic repeats (CRISPR)/Cas-based adaptive immunity against pathogens in bacteria has been adapted for genome editing and applied in zebrafish (Danio rerio) to generate frameshift mutations in protein-coding genes. Although there are methods to detect, quantify and sequence CRISPR/Cas9-induced mutations, identifying mutations in F1 heterozygous fish remains challenging. Additionally, sequencing a mutation and assuming that it causes a frameshift does not prove causality because of possible alternative translation start sites and potential effects of mutations on splicing...
June 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28251550/the-mystery-of-puberty-initiation-genetics-and-epigenetics-of-idiopathic-central-precocious-puberty-icpp
#13
REVIEW
Sofia Leka-Emiri, George P Chrousos, Christina Kanaka-Gantenbein
Puberty is a major developmental stage. Damaging mutations, considered as "mistakes of nature", have contributed to the unraveling of the networks implicated in the normal initiation of puberty. Genes involved in the abnormal hypothalamic-pituitary-gonadal (HPG) axis development, in the normosmic idiopathic hypogonadotropic hypogonadism (nIHH), in the X-linked or autosomal forms of Kallmann syndrome and in precocious puberty have been identified (GNRH1, GNRHR, KISS1, GPR54, FGFR1, FGF8, PROK2, PROKR2, TAC3, TACR3, KAL1, PROK2, PROKR2, CHD7, LEP, LEPR, PC1, DAX1, SF-1, HESX-1, LHX3, PROP-1)...
August 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28209183/variants-in-congenital-hypogonadotrophic-hypogonadism-genes-identified-in-an-indonesian-cohort-of-46-xy-under-virilised-boys
#14
Katie L Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H Sinclair, Sultana M H Faradz
BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty...
February 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28203701/integrative-analysis-identifies-co-dependent-gene-expression-regulation-of-brg1-and-chd7-at-distal-regulatory-sites-in-embryonic-stem-cells
#15
Pengyi Yang, Andrew Oldfield, Taiyun Kim, Andrian Yang, Jean Yee Hwa Yang, Joshua W K Ho
Motivation: DNA binding proteins such as chromatin remodellers, transcription factors (TFs), histone modifiers and co-factors often bind cooperatively to activate or repress their target genes in a cell type-specific manner. Nonetheless, the precise role of cooperative binding in defining cell-type identity is still largely uncharacterized. Results: Here, we collected and analyzed 214 public datasets representing chromatin immunoprecipitation followed by sequencing (ChIP-Seq) of 104 DNA binding proteins in embryonic stem cell (ESC) lines...
July 1, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28165338/the-chromatin-remodeling-factor-chd7-controls-cerebellar-development-by-regulating-reelin-expression
#16
Danielle E Whittaker, Kimberley L H Riegman, Sahrunizam Kasah, Conor Mohan, Tian Yu, Blanca Pijuan Sala, Husam Hebaishi, Angela Caruso, Ana Claudia Marques, Caterina Michetti, María Eugenia Sanz Smachetti, Apar Shah, Mara Sabbioni, Omer Kulhanci, Wee-Wei Tee, Danny Reinberg, Maria Luisa Scattoni, Holger Volk, Imelda McGonnell, Fiona C Wardle, Cathy Fernandes, M Albert Basson
The mechanisms underlying the neurodevelopmental deficits associated with CHARGE syndrome, which include cerebellar hypoplasia, developmental delay, coordination problems, and autistic features, have not been identified. CHARGE syndrome has been associated with mutations in the gene encoding the ATP-dependent chromatin remodeler CHD7. CHD7 is expressed in neural stem and progenitor cells, but its role in neurogenesis during brain development remains unknown. Here we have shown that deletion of Chd7 from cerebellar granule cell progenitors (GCps) results in reduced GCp proliferation, cerebellar hypoplasia, developmental delay, and motor deficits in mice...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28155231/charge-syndrome-gastrointestinal-involvement-from-mouth-to-anus
#17
REVIEW
A Hudson, M Macdonald, J N Friedman, K Blake
CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral-motor function abnormalities...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28152519/kalirin-and-chd7-novel-endothelial-dysfunction-indicators-in-circulating-extracellular-vesicles-from-hypertensive-patients-with-albuminuria
#18
Fernando de la Cuesta, Montserrat Baldan-Martin, Rafael Moreno-Luna, Gloria Alvarez-Llamas, Laura Gonzalez-Calero, Laura Mourino-Alvarez, Tamara Sastre-Oliva, Juan A López, Jesús Vázquez, Gema Ruiz-Hurtado, Julian Segura, Fernando Vivanco, Luis M Ruilope, Maria G Barderas
Despite of the great advances in anti-hypertensive therapies, many patients under Renin-Angiotensin- System (RAS) suppression develop albuminuria, which is a clear indicator of therapeutic inefficiency. Hence, indicators of vascular function are needed to assess patients' condition and help deciding future therapies.Proteomic analysis of circulating extracellular vesicles (EVs) showed two proteins, kalirin and chromodomain-helicase-DNA-binding protein 7 (CHD7), increased in albuminuric patients. A positive correlation of both with the expression of the endothelial activation marker E-selectin was found in EVs...
February 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28130116/diagnostic-yield-of-targeted-gene-panel-sequencing-to-identify-the-genetic-etiology-of-disorders-of-sex-development
#19
Ja Hye Kim, Eungu Kang, Sun Hee Heo, Gu-Hwan Kim, Ja-Hyun Jang, Eun-Hae Cho, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi
Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR, CYP17A1, SRD5A1, and DMRT1/2 genes. Novel variants were identified in nine patients (20.5%) in the AR, ATRX, CYP17A1, CHD7, MAP3K1, NR5A1, and WWOX genes...
January 24, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28040132/molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-8-or-r-8-p12%C3%A2-q13-1-associated-with-phenotypic-abnormalities
#20
Chih-Ping Chen, Shuan-Pei Lin, Yi-Hui Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Wen-Lin Chen, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. MATERIALS AND METHODS: A 35-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[20]/46,XY[39]. However, array comparative genomic hybridization analysis on the subcultured amniocytes revealed no genomic imbalance. Prenatal ultrasound showed bilateral ventriculomegaly, intrauterine growth restriction, and an enlarged right atrium...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
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