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Genetics

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33 papers 0 to 25 followers
https://www.readbyqxmd.com/read/28706481/adverse-effects-of-the-apolipoprotein-e-%C3%AE%C2%B54-allele-on-episodic-memory-task-switching-and-gray-matter-volume-in-healthy-young-adults
#1
Jianfei Nao, Hongzan Sun, Qiushi Wang, Shuang Ma, Shuo Zhang, Xiaoyu Dong, Ying Ma, Xiaoming Wang, Dongming Zheng
Many studies have shown that healthy elderly subjects and patients with Alzheimer's disease (AD) who carry the apolipoprotein E (ApoE) ε4 allele have worse cognitive function and more severe brain atrophy than non-carriers. However, it remains unclear whether this ApoE polymorphism leads to changes of cognition and brain morphology in healthy young adults. In this study, we used an established model to measure verbal episodic memory and core executive function (EF) components (response inhibition, working memory and task switching) in 32 ApoE ε4 carriers and 40 non-carriers between 20 years and 40 years of age...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28504703/polygenic-transmission-disequilibrium-confirms-that-common-and-rare-variation-act-additively-to-create-risk-for-autism-spectrum-disorders
#2
Daniel J Weiner, Emilie M Wigdor, Stephan Ripke, Raymond K Walters, Jack A Kosmicki, Jakob Grove, Kaitlin E Samocha, Jacqueline I Goldstein, Aysu Okbay, Jonas Bybjerg-Grauholm, Thomas Werge, David M Hougaard, Jacob Taylor, David Skuse, Bernie Devlin, Richard Anney, Stephan J Sanders, Somer Bishop, Preben Bo Mortensen, Anders D Børglum, George Davey Smith, Mark J Daly, Elise B Robinson
Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD...
July 2017: Nature Genetics
https://www.readbyqxmd.com/read/28292732/alternating-hemiplegia-and-epilepsia-partialis-continua-a-new-phenotype-for-a-novel-compound-tbc1d24-mutation
#3
Francesca Ragona, Barbara Castellotti, Barbara Salis, Stefania Magri, Jacopo C DiFrancesco, Nardo Nardocci, Silvana Franceschetti, Cinzia Gellera, Tiziana Granata
Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) target re-sequencing gene approach, the DNA of a 5 year-old girl, affected by recurrent attacks of Alternating Hemiplegia (AH) and by recurrent episodes of Epilepsia Partialis Continua (EPC)...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/25511120/a-treatable-metabolic-cause-of-encephalopathy-cobalamin-c-deficiency-in-an-8-year-old-male
#4
Jena M Krueger, Juan Piantino, Craig M Smith, Brad Angle, Charu Venkatesan, Mark S Wainwright
Neurologic regression in a previously healthy child may be caused by metabolic or neurodegenerative disorders, many of which have no definitive treatment. We report a case of a previously healthy 8-year-old boy who presented with a month-long history of waxing and waning encephalopathy and acute regression, followed by seizures. Evaluation for a metabolic disorder revealed methylmalonic acidemia and hyperhomocysteinemia of the cobalamin C type due to a single, presumed homozygous pathogenic c.394 C>T mutation in the MMACHC gene...
January 2015: Pediatrics
https://www.readbyqxmd.com/read/19732866/folate-receptor-alpha-defect-causes-cerebral-folate-transport-deficiency-a-treatable-neurodegenerative-disorder-associated-with-disturbed-myelin-metabolism
#5
Robert Steinfeld, Marcel Grapp, Ralph Kraetzner, Steffi Dreha-Kulaczewski, Gunther Helms, Peter Dechent, Ron Wevers, Salvatore Grosso, Jutta Gärtner
Sufficient folate supplementation is essential for a multitude of biological processes and diverse organ systems. At least five distinct inherited disorders of folate transport and metabolism are presently known, all of which cause systemic folate deficiency. We identified an inherited brain-specific folate transport defect that is caused by mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha). Three patients carrying FOLR1 mutations developed progressive movement disturbance, psychomotor decline, and epilepsy and showed severely reduced folate concentrations in the cerebrospinal fluid (CSF)...
September 2009: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28214165/agenesis-of-the-corpus-callosum-and-aicardi-syndrome-a%C3%A2-neuroimaging-and-clinical-comparison
#6
T Govil-Dalela, A Kumar, R Agarwal, H T Chugani
BACKGROUND: Agenesis of the corpus callosum can occur in individuals with epilepsy, either in isolation or as part of various neurological conditions, such as Aicardi syndrome. In this study, we evaluated the clinical and neuroradiological differences between children with nonsyndromic agenesis of the corpus callosum and those with Aicardi syndrome. METHODS: We evaluated 31 children with epilepsy and agenesis of the corpus callosum (11 males, 20 females), 14 of whom had Aicardi syndrome (all females)...
March 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28119487/stag1-mutations-cause-a-novel-cohesinopathy-characterised-by-unspecific-syndromic-intellectual-disability
#7
Daphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, Odile Boute-Benejean, Perrine Charles, Megan T Cho, Amanda Clarkson, Orrin Devinsky, Yannis Duffourd, Laurence Duplomb-Jego, Bénédicte Gérard, Aurélia Jacquette, Paul Kuentz, Alice Masurel-Paulet, Carey McDougall, Sébastien Moutton, Hilde Olivié, Soo-Mi Park, Anita Rauch, Nicole Revencu, Jean-Baptiste Rivière, Karol Rubin, Ingrid Simonic, Deborah J Shears, Thomas Smol, Ana Lisa Taylor Tavares, Paulien Terhal, Julien Thevenon, Koen Van Gassen, Catherine Vincent-Delorme, Marjolein H Willemsen, Golder N Wilson, Elaine Zackai, Christiane Zweier, Patrick Callier, Christel Thauvin-Robinet, Laurence Faivre
BACKGROUND: Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. This work aimed to identify the phenotype ascribed to STAG1 mutations. METHODS: Among patients referred for intellectual disability (ID) in genetics departments worldwide, array-comparative genomic hybridisation (CGH), gene panel, whole-exome sequencing or whole-genome sequencing were performed following the local diagnostic standards...
January 24, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28143899/a-missense-mutation-in-the-crbn-gene-that-segregates-with-intellectual-disability-and-self-mutilating-behaviour-in-a-consanguineous-saudi-family
#8
Atia Sheereen, Manal Alaamery, Shahad Bawazeer, Yusra Al Yafee, Salam Massadeh, Wafaa Eyaid
BACKGROUND: Autosomal-recessive non-syndromic intellectual disability (ARNS-ID) is an aetiologically heterogeneous disorder. Although little is known about the function of human cereblon (CRBN), its relationship to mild cognitive deficits suggests that it is involved in the basic processes of human memory and learning. OBJECTIVES: We aim to identify the genetic cause of intellectual disability and self-mutilation in a consanguineous Saudi family with five affected members...
April 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/23858412/lipoid-proteinosis-with-bilateral-amygdalae-calcifications-headache-and-cognitive-impairments
#9
David Arkadir, Israela Lerer, Laurent Klapholz, Michael Halpert, J P Newman, J Moshe Gomori, Alexander Lossos
No abstract text is available yet for this article.
July 16, 2013: Neurology
https://www.readbyqxmd.com/read/23439709/teaching-neuroimages-lipoid-proteinosis-urbach-wiethe-disease-typical-findings-in-this-rare-genodermatosis
#10
Marcelo Bianco Quirici, Antonio J da Rocha
No abstract text is available yet for this article.
February 26, 2013: Neurology
https://www.readbyqxmd.com/read/26564090/lipoid-proteinosis
#11
REVIEW
John A Mcgrath
Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in ECM1, encoding extracellular matrix protein 1, a glycoprotein expressed in many organs and which has important protein-protein interactions in tissue homeostasis. Although the disease usually presents clinically with warty infiltration of the skin and mucous membranes and a hoarse voice, neuropsychological and neuropsychiatric abnormalities are often prominent features. There may be bean- or comma-shaped intracranial calcifications, often selectively affecting the amygdala...
2015: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28080490/vascular-cerebral-anomalies-associated-with-septo-optic-dysplasia
#12
I Chiaramonte, G Cappello, A Uccello, V Guarrera, A Damore, T Cavallaro, R Chiaramonte, G C Ettorre
We describe a case of Septo-Optic Dysplasia (SOD) characterized by the presence of anomalous cerebral vessels. In our young patient the classical features of SOD were associated with vascular anomalies including absence of the vein of Galen, right Rosenthal vein leading to the superior petrosal sinus, and anomalous origin of the anterior choroidal arteries. These findings have never been associated with SOD in the literature but their revelation supports the hypothesis of a vascular disruption as a possible cause of the SOD...
February 2013: Neuroradiology Journal
https://www.readbyqxmd.com/read/28073790/clemizole-and-modulators-of-serotonin-signalling-suppress-seizures-in-dravet-syndrome
#13
Aliesha Griffin, Kyla R Hamling, Kelly Knupp, SoonGweon Hong, Luke P Lee, Scott C Baraban
Dravet syndrome is a catastrophic childhood epilepsy with early-onset seizures, delayed language and motor development, sleep disturbances, anxiety-like behaviour, severe cognitive deficit and an increased risk of fatality. It is primarily caused by de novo mutations of the SCN1A gene encoding a neuronal voltage-activated sodium channel. Zebrafish with a mutation in the SCN1A homologue recapitulate spontaneous seizure activity and mimic the convulsive behavioural movements observed in Dravet syndrome. Here, we show that phenotypic screening of drug libraries in zebrafish scn1 mutants rapidly and successfully identifies new therapeutics...
March 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27943641/genomic-variants-genes-and-pathways-of-alzheimer-s-disease-an-overview
#14
REVIEW
Adam C Naj, Gerard D Schellenberg
Alzheimer's disease (AD) (MIM: 104300) is a highly heritable disease with great complexity in its genetic contributors, and represents the most common form of dementia. With the gradual aging of the world's population, leading to increased prevalence of AD, and the substantial cost of care for those afflicted, identifying the genetic causes of disease represents a critical effort in identifying therapeutic targets. Here we provide a comprehensive review of genomic studies of AD, from the earliest linkage studies identifying monogenic contributors to early-onset forms of AD to the genome-wide and rare variant association studies of recent years that are being used to characterize the mosaic of genetic contributors to late-onset AD (LOAD), and which have identified approximately ∼20 genes with common variants contributing to LOAD risk...
January 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28079229/the-transcription-factor-xbp1-in-memory-and-cognition-implications-in-alzheimer-disease
#15
Moustapha Cissé, Eric Duplan, Frédéric Checler
X-box binding protein 1 (XBP1) is a unique basic region leucine zipper transcription factor isolated two decades ago in a search for regulators of major histocompatibility complex class II gene expression. XBP1 is a very complex protein regulating many physiological functions, including immune system, inflammatory responses, and lipid metabolism. Evidence over the past few years suggests that XBP1 also plays important roles in pathological settings since its activity as transcription factor has profound effects on the prognosis and progression of diseases such as cancer, neurodegeneration, and diabetes...
January 4, 2017: Molecular Medicine
https://www.readbyqxmd.com/read/28080202/chemical-probes-targeting-epigenetic-proteins-applications-beyond-oncology
#16
REVIEW
Suzanne Ackloo, Peter J Brown, Susanne Müller
Epigenetic chemical probes are potent, cell-active, small molecule inhibitors or antagonists of specific domains in a protein; they have been indispensable for studying bromodomains and protein methyltransferases. The Structural Genomics Consortium (SGC), comprising scientists from academic and pharmaceutical laboratories, has generated most of the current epigenetic chemical probes. Moreover, the SGC has shared about 4 thousand aliquots of these probes, which have been used primarily for phenotypic profiling or to validate targets in cell lines or primary patient samples cultured in vitro...
May 4, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/27919468/somatic-gnaq-mutation-is-enriched-in-brain-endothelial-cells-in%C3%A2-sturge-weber-syndrome
#17
Lan Huang, Javier A Couto, Anna Pinto, Sanda Alexandrescu, Joseph R Madsen, Arin K Greene, Mustafa Sahin, Joyce Bischoff
BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the GNAQ mutation. The purpose of this study is to determine whether the GNAQ mutation is also enriched in endothelial cells in affected SWS brain...
February 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28024842/congenital-myasthenic-syndrome-in-israel-genetic-and-clinical-characterization
#18
Sharon Aharoni, Menachem Sadeh, Yehuda Shapira, Simon Edvardson, Muhannad Daana, Talia Dor-Wollman, Aviva Mimouni-Bloch, Ayelet Halevy, Rony Cohen, Liora Sagie, Zohar Argov, Malcolm Rabie, Ronen Spiegel, Ilana Chervinsky, Naama Orenstein, Andrew G Engel, Yoram Nevo
The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients of Iranian and/or Iraqi Jewish origin. All medical records were reviewed and clinical data, genetic mutations and outcomes were recorded. Forty-five patients with genetic mutations in known CMS genes from 35 families were identified...
February 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28017939/huntingtin-is-a-scaffolding-protein-in-the-atm-oxidative-dna-damage-response-complex
#19
Tamara Maiuri, Andrew J Mocle, Claudia L Hung, Jianrun Xia, Willeke M C van Roon-Mom, Ray Truant
Huntington's disease (HD) is an age-dependent neurodegenerative disease. DNA repair pathways have recently been implicated as the most predominant modifiers of age of onset in HD patients. We report that endogenous huntingtin protein directly participates in oxidative DNA damage repair. Using novel chromobodies to detect endogenous human huntingtin in live cells, we show that localization of huntingtin to DNA damage sites is dependent on the kinase activity of ataxia telangiectasia mutated (ATM) protein. Super-resolution microscopy and biochemical assays revealed that huntingtin co-localizes with and scaffolds proteins of the DNA damage response pathway in response to oxidative stress...
January 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28024081/deletion-of-the-gaa-repeats-from-the-human-frataxin-gene-using-the-crispr-cas9-system-in-yg8r-derived-cells-and-mouse-models-of-friedreich-ataxia
#20
D L Ouellet, K Cherif, J Rousseau, J P Tremblay
The Friedreich ataxia is a monogenic disease due to a hyperexpanded GAA triplet located within the first intron of the frataxin gene that causes transcriptional issues. The resulting frataxin protein deficiency leads to a Fe-S cluster biosynthesis dysfunction in the mitochondria and to oxidative stress and cell death. Here we use the CRISPR-Cas9 system to remove the mutated GAA expansion and restore the frataxin gene transcriptional activity and protein level. Both YG8R and YG8sR mouse models and cell lines derived from these mice were used to CRISPR-edited successfully the GAA expansion in vitro and in vivo...
May 2017: Gene Therapy
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