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https://www.readbyqxmd.com/read/29740950/the-first-reported-case-of-an-inherited-pathogenic-chd2-variant-in-a-clinically-affected-mother-and-daughter
#1
Andrea Klunder Petersen, Haley Streff, Mari Tokita, Bret L Bostwick
Pathogenic variants in CHD2 (chromodomain helicase DNA-binding protein 2) have been reported in neurodevelopmental disorders with a broad spectrum of phenotypic variability, ranging from mild intellectual disability to atonic-myoclonic epilepsy. However, given the paucity of reported cases the extent of this phenotypic spectrum is currently unknown. Furthermore, all confirmed pathogenic CHD2 variants reported to date have been de novo, preventing the study of intrafamilial phenotypic heterogeneity and creating ambiguity regarding recurrence risk, penetrance, and expressivity...
May 9, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29529558/chd2-epilepsy-polygraphic-documentation-of-self-induced-seizures-due-to-fixation-off-sensitivity
#2
Davide Caputo, Marina Trivisano, Federico Vigevano, Lucia Fusco
CHD2 gene has been described in association with different types of childhood myoclonic epilepsy and is emerging as a gene involved in photosensitivity alone or combined with epilepsy. Recent studies suggest that CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity and in particular with self-induced seizures. We report the case of a child with CHD2 mutation and mild developmental impairment that since the age of 3 years started with myoclonic seizures apparently well responding to antiepileptic drugs and that subsequently developed intractable self-induced seizures...
April 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29404929/nutritional-status-in-short-daily-hemodialysis-versus-conventional-hemodialysis-patients-in-china
#3
Jielong Jiang, Lijun Ni, Wei Ren, Xiaowan Zhou, Keliang Su, Lihua Wang, Lei Lan, Wei Chen, Yuanbo Wu
PURPOSE: Malnutrition is the main determinant of mortality and morbidity in maintenance hemodialysis patients. In many countries except for China, it has been reported that short daily hemodialysis (SDHD) could improve nutritional status. We will report here the nutritional results obtained in the SDHD therapy period compared with conventional hemodialysis (cHD) therapy period in Chinese patients. METHODS: This study compared 29 SDHD patients (SDHD group), each patient served as his own control, with 30 cHD patients (cHD group) serving as the parallel controls...
April 2018: International Urology and Nephrology
https://www.readbyqxmd.com/read/29390993/efficient-strategy-for-the-molecular-diagnosis-of-intractable-early-onset-epilepsy-using-targeted-gene-sequencing
#4
John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Jihun Kim, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang
BACKGROUND: We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytical step for increasing the diagnosis rate. METHODS: We assessed 74 patients with EOE whose seizures started before 3 years of age using a customized NGS panel that included 172 genes. Single nucleotide variants (SNVs) and exonic and chromosomal copy number variations (CNVs) were intensively examined with our customized pipeline and crosschecked with commercial or pre-built software...
February 1, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29376860/mutation-screening-of-the-chchd2-gene-for-alzheimer-s-disease-and-frontotemporal-dementia-in-chinese-mainland-population
#5
Xiang-Qian Che, Qian-Hua Zhao, Yue Huang, Xia Li, Ru-Jing Ren, Sheng-Di Chen, Qi-Hao Guo, Gang Wang
As an important multifunctional protein involved in regulation of mitochondrial metabolism, CHCHD2 was identified as a causative gene for Parkinson's disease (PD), yet the relationship between CHCHD2 and neurodegenerative dementia is not well understood. We directly sequenced the entire coding region of CHCHD2 gene in 150 AD patients, 84 FTD patients, and 417 controls. Four rare putative pathogenic variants of CHCHD2, including rs142444896 (c.5C>T, p.P2L), rs752705344 (c.15C>G, p.S5R), rs145190179 (c...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29314583/novel-mutations-and-phenotypes-of-epilepsy-associated-genes-in-epileptic-encephalopathies
#6
P Zhou, N He, J-W Zhang, Z-J Lin, J Wang, L-M Yan, H Meng, B Tang, B-M Li, X-R Liu, Y-W Shi, Q-X Zhai, Y-H Yi, W-P Liao
Epileptic encephalopathies are severe epilepsy disorders with strong genetic bases. We performed targeted next-generation sequencing (NGS) in 70 patients with epileptic encephalopathies. The likely pathogenicity of variants in candidate genes was evaluated by American College of Medical Genetics and Genomics (ACMG) scoring taken together with the accepted clinical presentation. Thirty-three candidate variants were detected after population filtration and computational prediction. According to ACMG, 21 candidate variants, including 18 de novo variants, were assessed to be pathogenic/likely pathogenic with clinical concordance...
January 4, 2018: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29306282/imaging-spectroscopy-of-the-missing-rempi-bands-of-methyl-radicals-final-touches-on-all-vibrational-frequencies-of-the-3p-rydberg-states
#7
Huilin Pan, Kopin Liu
(2 + 1) resonance-enhanced multiphoton ionization (REMPI) detection of methyl radicals, in particular that via the intermediate 3p Rydberg states, has shown to be a powerful method and thus enjoyed a wide range of applications. Methyl has six vibrational modes. Among them-including partially and fully deuterated isotopologs-four out of twenty vibrational frequencies in the intermediate 3p states have so far eluded direct spectroscopic determination. Here, by exploiting the imaging spectroscopy approach to a few judiciously selected chemical reactions, the four long-sought REMPI bands-CHD2 (61 1 ), CH2 D(31 1 ), CH2 D(51 1 ), and CH2 D(61 1 )-are discovered, which complete the REMPI identification for probing any vibrational mode of excitation of methyl radical and its isotopologs...
January 7, 2018: Journal of Chemical Physics
https://www.readbyqxmd.com/read/29229852/regulatory-networks-specifying-cortical-interneurons-from-human-embryonic-stem-cells-reveal-roles-for-chd2-in-interneuron-development
#8
Kesavan Meganathan, Emily M A Lewis, Paul Gontarz, Shaopeng Liu, Edouard G Stanley, Andrew G Elefanty, James E Huettner, Bo Zhang, Kristen L Kroll
Cortical interneurons (cINs) modulate excitatory neuronal activity by providing local inhibition. During fetal development, several cIN subtypes derive from the medial ganglionic eminence (MGE), a transient ventral telencephalic structure. While altered cIN development contributes to neurodevelopmental disorders, the inaccessibility of human fetal brain tissue during development has hampered efforts to define molecular networks controlling this process. Here, we modified protocols for directed differentiation of human embryonic stem cells, obtaining efficient, accelerated production of MGE-like progenitors and MGE-derived cIN subtypes with the expected electrophysiological properties...
December 26, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29190809/molecular-diagnosis-of-patients-with-epilepsy-and-developmental-delay-using-a-customized-panel-of-epilepsy-genes
#9
Laura Ortega-Moreno, Beatriz G Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M Serratosa
Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel)...
2017: PloS One
https://www.readbyqxmd.com/read/29153328/tdp-43-promotes-neurodegeneration-by-impairing-chromatin-remodeling
#10
Amit Berson, Ashley Sartoris, Raffaella Nativio, Vivianna Van Deerlin, Jon B Toledo, Sílvia Porta, Shichong Liu, Chia-Yu Chung, Benjamin A Garcia, Virginia M-Y Lee, John Q Trojanowski, F Brad Johnson, Shelley L Berger, Nancy M Bonini
Regulation of chromatin structure is critical for brain development and function. However, the involvement of chromatin dynamics in neurodegeneration is less well understood. Here we find, launching from Drosophila models of amyotrophic lateral sclerosis and frontotemporal dementia, that TDP-43 impairs the induction of multiple key stress genes required to protect from disease by reducing the recruitment of the chromatin remodeler Chd1 to chromatin. Chd1 depletion robustly enhances TDP-43-mediated neurodegeneration and promotes the formation of stress granules...
December 4, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28910737/chd2-mutations-only-epilepsy-description-of-cognitive-and-behavioral-profile-in-a-case-with-a-new-mutation
#11
Pia Bernardo, Diana Galletta, Felice Iasevoli, Luigi D'Ambrosio, Serena Troisi, Elena Gennaro, Federico Zara, Salvatore Striano, Andrea de Bartolomeis, Antonietta Coppola
No abstract text is available yet for this article.
October 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28880996/dravet-syndrome-and-its-mimics-beyond-scn1a
#12
REVIEW
Dora Steel, Joseph D Symonds, Sameer M Zuberi, Andreas Brunklaus
OBJECTIVE: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. Most cases are now known to be caused by pathogenic variants in the sodium channel gene SCN1A, but several other genes have also been implicated. This review examines current understanding of the role of non-SCN1A genes in DS, and what is known about phenotypic similarities and differences...
November 2017: Epilepsia
https://www.readbyqxmd.com/read/28867142/exonic-mosaic-mutations-contribute-risk-for-autism-spectrum-disorder
#13
Deidre R Krupp, Rebecca A Barnard, Yannis Duffourd, Sara A Evans, Ryan M Mulqueen, Raphael Bernier, Jean-Baptiste Rivière, Eric Fombonne, Brian J O'Roak
Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated. Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental disorders and overgrowth syndromes. By leveraging whole-exome sequencing data on a large family-based ASD cohort, the Simons Simplex Collection, we systematically evaluated the potential role of PMMs in autism risk. Initial re-evaluation of published single-nucleotide variant (SNV) de novo mutations showed evidence consistent with putative PMMs for 11% of mutations...
September 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28805617/molecular-cytogenetic-characterization-of-a-duplication-of-15q24-2-q26-2-associated-with-anencephaly-and-neural-tube-defect
#14
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chen-Chi Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect (NTD). CASE REPORT: A 35-year-old pregnant woman was found to have a fetus with anencephaly by prenatal ultrasound at 12 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with anencephaly. Cytogenetic analysis of the cultured placental tissues revealed a karyotype of 46,XX,dup(15) (q24...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28707684/conformer-specific-nonadiabatic-reaction-dynamics-in-the-photodissociation-of-partially-deuterated-thioanisoles-c-6-h-5-s-ch-2-d-and-c-6-h-5-s-chd-2
#15
So-Yeon Kim, Jeongmook Lee, Sang Kyu Kim
In this work, we have investigated nonadiabatic dynamics in the vicinity of conical intersections for predissociation reactions of partially deuterated thioanisole molecules: C6 H5 S-CH2 D and C6 H5 S-CHD2 . Each isotopomer has two distinct rotational conformers according to the geometrical position of D or H of the methyl moiety with respect to the molecular plane for C6 H5 S-CH2 D or C6 H5 S-CHD2 , respectively, as spectroscopically characterized in our earlier report [J. Lee, S.-Y. Kim and S. K. Kim, J. Phys...
July 26, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28647789/probing-slow-timescale-dynamics-in-proteins-using-methyl-1-h-cest
#16
Tairan Yuwen, Rui Huang, Lewis E Kay
Although (15)N- and (13)C-based chemical exchange saturation transfer (CEST) experiments have assumed an important role in studies of biomolecular conformational exchange, (1)H CEST experiments are only beginning to emerge. We present a methyl-TROSY (1)H CEST experiment that eliminates deleterious (1)H-(1)H NOE dips so that CEST profiles can be analyzed robustly to extract methyl proton chemical shifts of rare protein conformers. The utility of the experiment, along with a version that is optimized for (13)CHD2 labeled proteins, is established through studies of exchanging protein systems...
July 2017: Journal of Biomolecular NMR
https://www.readbyqxmd.com/read/28595412/non-adiabatic-effects-in-f-chd3-reactive-scattering
#17
Juliana Palma, Uwe Manthe
The effect of non-adiabatic transitions on the F((2)P) + CHD3(ν1) → DF + CHD2 and F((2)P) + CHD3(ν1) → HF + CD3 reactions is investigated. The dynamics of the nuclei was simulated using trajectory surface hopping and a vibronically and spin-orbit coupled diabatic potential energy matrix. To facilitate the calculations, the fewest switching algorithm of Tully was adapted to the use of a complex diabatic potential energy matrix. For reactions of CHD3 with ground state fluorine atoms, F((2)P3/2), the ratio between the previously computed adiabatic cross sections and the non-adiabatic ones was found to range from 1...
June 7, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28582417/genome-wide-alteration-in-dna-hydroxymethylation-in-the-sperm-from-bisphenol-a-exposed-men
#18
Huajun Zheng, Xiaoyu Zhou, De-Kun Li, Fen Yang, Hongjie Pan, Tianqi Li, Maohua Miao, Runsheng Li, Wei Yuan
Environmental BPA exposure has been shown to impact human sperm concentration and motility, as well as rodent spermatogenesis. However, it is unclear whether BPA exposure is associated with alteration in DNA hydroxymethylation, a marker for epigenetic modification, in human sperm. A genome-wide DNA hydroxymethylation study was performed using sperm samples of men who were occupationally exposed to BPA. Compared with controls who had no occupational BPA exposure, the total levels of 5-hydroxymethylcytosine (5hmc) increased significantly (19...
2017: PloS One
https://www.readbyqxmd.com/read/28549158/chd2-regulates-chromatin-for-proper-gene-expression-toward-differentiation-in-mouse-embryonic-stem-cells
#19
Yuichiro Semba, Akihito Harada, Kazumitsu Maehara, Shinya Oki, Chikara Meno, Jun Ueda, Kazuo Yamagata, Atsushi Suzuki, Mitsuho Onimaru, Jumpei Nogami, Seiji Okada, Koichi Akashi, Yasuyuki Ohkawa
Chromatin reorganization is necessary for pluripotent stem cells, including embryonic stem cells (ESCs), to acquire lineage potential. However, it remains unclear how ESCs maintain their characteristic chromatin state for appropriate gene expression upon differentiation. Here, we demonstrate that chromodomain helicase DNA-binding domain 2 (Chd2) is required to maintain the differentiation potential of mouse ESCs. Chd2-depleted ESCs showed suppressed expression of developmentally regulated genes upon differentiation and subsequent differentiation defects without affecting gene expression in the undifferentiated state...
September 6, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28489374/theoretical-study-of-the-pair-correlated-f-chd-3-v-0-%C3%AE-1-1-reaction-effect-of-ch-stretching-vibrational-excitation
#20
Joaquin Espinosa-Garcia, Laurent Bonnet, Jose C Corchado
The F + CHD3 (v) reaction is a benchmark system in polyatomic reactions. Theoretical/experimental comparisons have been reported in recent years that present some controversies, specifically the role of the reactant CH stretching vibrational excitation, CHD3 (ν1 = 1), on the reactivity of both isotope channels, DF(v) + CHD2 (v') and HF(v) + CD3 (v'). However, in many cases, these comparisons are not made on an equal footing. Previous theoretical studies were concerned with overall reactivity of each isotope channel, while fine velocity map imaging experiments provided results in a product pair-correlated manner...
June 1, 2017: Journal of Physical Chemistry. A
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