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Genetics

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19 papers 0 to 25 followers
https://www.readbyqxmd.com/read/28079229/the-transcription-factor-xbp1-in-memory-and-cognition-implications-in-alzheimer-disease
#1
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
#2
Suzanne Ackloo, Peter J Brown, Susanne Müller
Epigenetic chemical probes are potent, cell-active, small molecule inhibitors and 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 four 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...
January 12, 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
#3
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...
October 21, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28024842/congenital-myasthenic-syndrome-in-israel-genetic-and-clinical-characterization
#4
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...
November 24, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28017939/huntingtin-is-a-scaffolding-protein-in-the-atm-oxidative-dna-damage-response-complex
#5
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...
December 25, 2016: 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
#6
D L Ouellet, K Cherif, J Rousseau, J-P Tremblay
The Friedreich ataxia is a monogenic disease due to a hyper-expanded 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...
December 26, 2016: Gene Therapy
https://www.readbyqxmd.com/read/27959436/novel-cc2d2a-compound-heterozygous-mutations-cause-joubert-syndrome
#7
Daimin Xiao, Chunli Lv, Zhimin Zhang, Mingsong Wu, Xiang Zheng, Lei Yang, Xueying Li, Guan Wu, Jindong Chen
Joubert syndrome (JS) is an autosomal recessive disorder, which is characterized by hypotonia, ataxia, psychomotor delay, and variable occurrences of oculomotor apraxia and neonatal breathing abnormalities. JS is clinically and genetically heterogeneous. The present study investigated a typical JS family. The 'molar tooth sign' was observed in the proband through magnetic resonance imaging. Other symptoms of JS include cerebellar vermis hypoplasia/dysplasia, oculomotor apraxia and intellectual disability. High‑throughput sequencing revealed that JS was caused by coiled‑coil and C2 domain containing 2A (CC2D2A) compound heterozygous mutations...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/25554107/epigenetics-in-pediatrics
#8
REVIEW
Susan E Puumala, H Eugene Hoyme
Epigenetic mechanisms are external modifications of DNA that cause changes in gene function and are involved in many diseases. Specific examples of pediatric diseases with a known or suspected epigenetic component include Beckwith-Wiedemann syndrome, childhood leukemia, allergies, asthma, fetal alcohol spectrum disorders, childhood obesity, and type 2 diabetes mellitus. Currently, epigenetically active treatments are being used to treat childhood leukemia. Potential epigenetically active treatments and preventive regimens are under study for other diseases...
January 2015: Pediatrics in Review
https://www.readbyqxmd.com/read/27672172/clinical-reasoning-a-52-year-old-man-with-diplopia-and-ataxia
#9
Michael J Bradshaw, Siddharama Pawate, Karen C Bloch, Paul Moots, Nishitha M Reddy
No abstract text is available yet for this article.
September 27, 2016: Neurology
https://www.readbyqxmd.com/read/25695404/molecular-basis-of-klotho-from-gene-to-function-in-aging
#10
REVIEW
Yuechi Xu, Zhongjie Sun
The discovery of the Klotho (KL) gene, which was originally identified as a putative aging-suppressor gene, has generated tremendous interest and has advanced understanding of the aging process. In mice, the overexpression of the KL gene extends the life span, whereas mutations to the KL gene shorten the life span. The human KL gene encodes the α-Klotho protein, which is a multifunctional protein that regulates the metabolism of phosphate, calcium, and vitamin D. α-Klotho also may function as a hormone, although the α-Klotho receptor(s) has not been found...
April 2015: Endocrine Reviews
https://www.readbyqxmd.com/read/27841880/the-genomic-landscape-of-balanced-cytogenetic-abnormalities-associated-with-human-congenital-anomalies
#11
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Jennelle C Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M Seabra, Mary-Alice Abbott, Omar A Abdul-Rahman, Erika Aberg, Rhett Adley, Sofia L Alcaraz-Estrada, Fowzan S Alkuraya, Yu An, Mary-Anne Anderson, Caroline Antolik, Kwame Anyane-Yeboa, Joan F Atkin, Tina Bartell, Jonathan A Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M H F Bongers, Eva H Brilstra, Chester W Brown, Hennie T Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin B Currall, Tom Cushing, Dezso David, Matthew A Deardorff, Annelies Dheedene, Marc D'Hooghe, Bert B A de Vries, Dawn L Earl, Heather L Ferguson, Heather Fisher, David R FitzPatrick, Pamela Gerrol, Daniela Giachino, Joseph T Glessner, Troy Gliem, Margo Grady, Brett H Graham, Cristin Griffis, Karen W Gripp, Andrea L Gropman, Andrea Hanson-Kahn, David J Harris, Mark A Hayden, Rosamund Hill, Ron Hochstenbach, Jodi D Hoffman, Robert J Hopkin, Monika W Hubshman, A Micheil Innes, Mira Irons, Melita Irving, Jessie C Jacobsen, Sandra Janssens, Tamison Jewett, John P Johnson, Marjolijn C Jongmans, Stephen G Kahler, David A Koolen, Jerome Korzelius, Peter M Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen Leppig, Alex V Levin, Haibo Li, Hong Li, Eric C Liao, Cynthia Lim, Edward J Lose, Diane Lucente, Michael J Macera, Poornima Manavalan, Giorgia Mandrile, Carlo L Marcelis, Lauren Margolin, Tamara Mason, Diane Masser-Frye, Michael W McClellan, Cinthya J Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya R Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan E Mortenson, Graciela Moya, Aggie W Nieuwint, Zehra Ordulu, Sandhya Parkash, Susan P Pauker, Shahrin Pereira, Danielle Perrin, Katy Phelan, Raul E Piña Aguilar, Pino J Poddighe, Giulia Pregno, Salmo Raskin, Linda Reis, William Rhead, Debra Rita, Ivo Renkens, Filip Roelens, Jayla Ruliera, Patrick Rump, Samantha L P Schilit, Ranad Shaheen, Rebecca Sparkes, Erica Spiegel, Blair Stevens, Matthew R Stone, Julia Tagoe, Joseph V Thakuria, Bregje W van Bon, Jiddeke van de Kamp, Ineke van Der Burgt, Ton van Essen, Conny M van Ravenswaaij-Arts, Markus J van Roosmalen, Sarah Vergult, Catharina M L Volker-Touw, Dorothy P Warburton, Matthew J Waterman, Susan Wiley, Anna Wilson, Maria de la Concepcion A Yerena-de Vega, Roberto T Zori, Brynn Levy, Han G Brunner, Nicole de Leeuw, Wigard P Kloosterman, Erik C Thorland, Cynthia C Morton, James F Gusella, Michael E Talkowski
Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5...
January 2017: Nature Genetics
https://www.readbyqxmd.com/read/27777022/clinical-phenotype-and-genetic-associations-in-autosomal-dominant-familial-alzheimer-s-disease-a-case-series
#12
Natalie S Ryan, Jennifer M Nicholas, Philip S J Weston, Yuying Liang, Tammaryn Lashley, Rita Guerreiro, Gary Adamson, Janna Kenny, Jon Beck, Lucia Chavez-Gutierrez, Bart de Strooper, Tamas Revesz, Janice Holton, Simon Mead, Martin N Rossor, Nick C Fox
BACKGROUND: The causes of phenotypic heterogeneity in familial Alzheimer's disease with autosomal dominant inheritance are not well understood. We aimed to characterise clinical phenotypes and genetic associations with APP and PSEN1 mutations in symptomatic autosomal dominant familial Alzheimer's disease (ADAD). METHODS: We retrospectively analysed genotypic and phenotypic data (age at symptom onset, initial cognitive or behavioural symptoms, and presence of myoclonus, seizures, pyramidal signs, extrapyramidal signs, and cerebellar signs) from all individuals with ADAD due to APP or PSEN1 mutations seen at the Dementia Research Centre in London, UK...
October 21, 2016: Lancet Neurology
https://www.readbyqxmd.com/read/27159321/whole-exome-sequencing-in-patients-with-white-matter-abnormalities
#13
Adeline Vanderver, Cas Simons, Guy Helman, Joanna Crawford, Nicole I Wolf, Geneviève Bernard, Amy Pizzino, Johanna L Schmidt, Asako Takanohashi, David Miller, Amirah Khouzam, Vani Rajan, Erica Ramos, Shimul Chowdhury, Tina Hambuch, Kelin Ru, Gregory J Baillie, Sean M Grimmond, Ljubica Caldovic, Joseph Devaney, Miriam Bloom, Sarah H Evans, Jennifer L P Murphy, Nathan McNeill, Brent L Fogel, Raphael Schiffmann, Marjo S van der Knaap, Ryan J Taft
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greater, family groups. Diagnostic pathogenic variants were identified in 35% (25 of 71) of patients. Potentially pathogenic variants were identified in clinically relevant genes in a further 7% (5 of 71) of cases, giving a total yield of clinical diagnoses in 42% of individuals...
June 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27696642/partially-methylated-alleles-microdeletion-and-tissue-mosaicism-in-a-fragile-x-male-with-tremor-and-ataxia-at-30-years-of-age-a-case-report
#14
Yun Tae Hwang, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Belinda Chong, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Matthew Hunter, Robert Heard, David Eugeny Godler
CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology...
October 1, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/25172344/micrornas-and-epigenetics-in-adult-neurogenesis
#15
REVIEW
Tamami Wakabayashi, Ryo Hidaka, Shin Fujimaki, Makoto Asashima, Tomoko Kuwabara
Neurogenesis occurs throughout adulthood in the mammalian brain. Neural stem cells (NSCs) exist in three distinct areas of the brain: the subventricular zone, the olfactory bulb, and the dentate gyrus of the hippocampus. MicroRNAs (miRNAs) are small noncoding RNA molecules that posttranscriptionally regulate gene expression. Epigenetic regulation of gene expression, which includes DNA methylation and histone modification, plays a significant role in modulating NSC proliferation and differentiation. However, the functions of miRNAs in neurogenesis are just beginning to be understood...
2014: Advances in Genetics
https://www.readbyqxmd.com/read/25311921/clinical-applications-involving-cns-gene-transfer
#16
REVIEW
Boris Kantor, Thomas McCown, Paola Leone, Steven J Gray
Diseases of the central nervous system (CNS) have traditionally been the most difficult to treat by traditional pharmacological methods, due mostly to the blood-brain barrier and the difficulties associated with repeated drug administration targeting the CNS. Viral vector gene transfer represents a way to permanently provide a therapeutic protein within the nervous system after a single administration, whether this be a gene replacement strategy for an inherited disorder or a disease-modifying protein for a disease such as Parkinson's...
2014: Advances in Genetics
https://www.readbyqxmd.com/read/25311922/methods-for-gene-transfer-to-the-central-nervous-system
#17
REVIEW
Boris Kantor, Rachel M Bailey, Keon Wimberly, Sahana N Kalburgi, Steven J Gray
Gene transfer is an increasingly utilized approach for research and clinical applications involving the central nervous system (CNS). Vectors for gene transfer can be as simple as an unmodified plasmid, but more commonly involve complex modifications to viruses to make them suitable gene delivery vehicles. This chapter will explain how tools for CNS gene transfer have been derived from naturally occurring viruses. The current capabilities of plasmid, retroviral, adeno-associated virus, adenovirus, and herpes simplex virus vectors for CNS gene delivery will be described...
2014: Advances in Genetics
https://www.readbyqxmd.com/read/25620011/noncoding-oligonucleotides-the-belle-of-the-ball-in-gene-therapy
#18
Ka-To Shum, John J Rossi
Gene therapy carries the promise of cures for many diseases based on manipulating the expression of a person's genes toward the therapeutic goal. The relevance of noncoding oligonucleotides to human disease is attracting widespread attention. Noncoding oligonucleotides are not only involved in gene regulation, but can also be modified into therapeutic tools. There are many strategies that leverage noncoding oligonucleotides for gene therapy, including small interfering RNAs, antisense oligonucleotides, aptamers, ribozymes, decoys, and bacteriophage phi 29 RNAs...
2015: Advances in Genetics
https://www.readbyqxmd.com/read/25620009/hydrodynamic-delivery
#19
Takeshi Suda, Dexi Liu
Hydrodynamic delivery (HD) is a broadly used procedure for DNA and RNA delivery in rodents, serving as a powerful tool for gene/protein drug discovery, gene function analysis, target validation, and identification of elements in regulating gene expression in vivo. HD involves a pressurized injection of a large volume of solution into a vasculature. New procedures are being developed to satisfy the need for a safe and efficient gene delivery in clinic. Here, we summarize the fundamentals of HD, its applications, and future perspectives for clinical use...
2015: Advances in Genetics
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