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https://www.readbyqxmd.com/read/28188302/vesicular-acetylcholine-transporter-defect-underlies-devastating-congenital-myasthenia-syndrome
#1
Adi Aran, Reeval Segel, Kota Kaneshige, Suleyman Gulsuner, Paul Renbaum, Scott Oliphant, Tomer Meirson, Ariella Weinberg-Shukron, Yair Hershkovitz, Sharon Zeligson, Ming K Lee, Abraham O Samson, Stanley M Parsons, Mary-Claire King, Ephrat Levy-Lahad, Tom Walsh
OBJECTIVE: To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure. METHODS: Identification of the responsible gene by exome sequencing and assessment of the effect of the mutation on protein stability in transfected rat neuronal-like PC12(A123.7) cells. RESULTS: Two brothers from a nonconsanguineous Yemeni Jewish family manifested at birth with severe hypotonia and arthrogryposis...
February 10, 2017: Neurology
https://www.readbyqxmd.com/read/28184945/first-description-of-a-double-heterozygosity-for-brca1-and-brca2-pathogenic-variants-in-a-french-metastatic-breast-cancer-patient-a-case-report
#2
Guillaume Meynard, Laura Mansi, Pierre Lebahar, Cristian Villanueva, Elodie Klajer, Fabien Calcagno, Adrian Vivalta, Marie Chaix, Marie-Agnès Collonge-Rame, Céline Populaire, Marie-Paule Algros, Prudence Colpart, Julie Neidich, Xavier Pivot, Elsa Curtit
Hereditary breast and ovarian cancer syndrome is an autosomal dominant disease caused primarily by germline mutations in the BRCA1 or BRCA2 gene. Rare cases of double heterozygosity for BRCA1 and BRCA2 mutations have been reported quite exceptionally in non-Ashkenazi individuals. We describe the case of a woman who developed a bilateral breast cancer, discovered concomitantly, at 46 years old. Biopsies confirmed the presence of two breast cancers with distinct histology. BRCA analysis was tested due to a positive family history of breast cancer, and two pathogenic monoallelic mutations were detected, one in the BRCA1 gene and one in the BRCA2 gene...
March 2017: Oncology Reports
https://www.readbyqxmd.com/read/28130616/investigation-of-the-motor-system-in-two-siblings-with-canavan-s-disease-a-combined-transcranial-magnetic-stimulation-tms-diffusion-tensor-imaging-dti-study
#3
V K Kimiskidis, Vasileios Papaliagkas, S Papagiannopoulos, D Zafeiriou, D Kazis, E Tsatsali-Foroglou, Z Kouvatsou, V Kapina, D Koutsonikolas, G Anogianakis, T Geroukis, S Bostantjopoulou
Canavan's disease (CD) is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to spongiform degeneration of the white matter and severe impairment of psychomotor development. We present the cases of two non-Jewish sisters with CD that have a milder and protracted clinical course compared to typical CD. MRI imaging revealed bilateral high-signal-intensity areas in the thalami and the internal capsule and MR spectroscopy showed typical findings for CD (a marked increase in N-acetylaspartate (NAA) levels)...
January 28, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#4
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28067713/widespread-down-regulation-of-cardiac-mitochondrial-and-sarcomeric-genes-in-patients-with-sepsis
#5
Scot J Matkovich, Belal Al Khiami, Igor R Efimov, Sarah Evans, Justin Vader, Ashwin Jain, Bernard H Brownstein, Richard S Hotchkiss, Douglas L Mann
OBJECTIVES: The mechanism(s) for septic cardiomyopathy in humans is not known. To address this, we measured messenger RNA alterations in hearts from patients who died from systemic sepsis, in comparison to changed messenger RNA expression in nonfailing and failing human hearts. DESIGN: Identification of genes with altered abundance in septic cardiomyopathy, ischemic heart disease, or dilated cardiomyopathy, in comparison to nonfailing hearts. SETTING: ICUs at Barnes-Jewish Hospital, St...
March 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28024842/congenital-myasthenic-syndrome-in-israel-genetic-and-clinical-characterization
#6
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/28012950/a-dose-effect-of-mutations-in-the-gba-gene-on-parkinson-s-disease-phenotype
#7
Avner Thaler, Tanya Gurevich, Anat Bar Shira, Mali Gana Weisz, Elissa Ash, Tamara Shiner, Avi Orr-Urtreger, Nir Giladi, Anat Mirelman
OBJECTIVE: Mutations in the GBA gene are associated with Parkinson's disease (PD). A definite description of the clinical characteristics of PD patients who are compound heterozygotes or homozygotes for mutations in the GBA gene (GD-PD) requires further elucidation. METHODS: We assessed motor, cognitive, olfactory and autonomic functions as well as demographic data and medical history in a cohort of Ashkenazi Jewish PD patients who were screened for seven common mutations in the GBA gene...
December 16, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28002332/the-association-of-the-mthfr-c677t-polymorphism-with-inflammatory-bowel-diseases-in-the-israeli-jewish-population-an-example-of-genetic-heterogeneity
#8
Amir Karban, Tzah Feldman, Matti Waterman, Ronit Leiba, Edna Efrati
MTHFR C677T is a common gene polymorphism that has been shown to be associated with hyperhomocysteinemia. Studies on the role of MTHFR in inflammatory bowel diseases (IBD) have yielded conflicting results, perhaps due in part to genetic heterogeneity. The prevalence of the MTHFR C677T variant allele varies according to Jewish subpopulations: Ashkenazi vs non-Ashkenazi. The aim of this study was to examine the association between MTHFR C677T genotype and IBD in the different Jewish populations.DNA samples were assessed for the presence of the MTHFR C677T variant allele in 445 Jewish Israeli IBD patients: 338 with Crohn's disease [CD] (214 Ashkenazi and 124 non-Ashkenazi Jews) and 107 with ulcerative colitis [UC] (73 Ashkenazi and 34 non-Ashkenazi Jews), and in 347 healthy controls: 173 Ashkenazi and 174 Non-Ashkenazi Jews...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27933661/mutations-in-the-neb-gene-cause-fetal-akinesia-arthrogryposis-multiplex-congenita
#9
Michal Feingold-Zadok, David Chitayat, Karen Chong, Marie Injeyan, Patrick Shannon, Daphne Chapmann, Ron Maymon, Nir Pillar, Orit Reish
OBJECTIVE: We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene. METHOD: We pathologically assessed seven cases from three families, who presented with AMC/FADS. Targeted genetic analysis for Ashkenazi Jewish mutation (in relevant patients) was followed by next-generation sequencing and multiplex ligation-dependent probe amplification...
December 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27866339/recurrent-tp53-missense-mutation-in-cancer-patients-of-arab-descent
#10
Aviad Zick, Luna Kadouri, Sherri Cohen, Michael Frohlinger, Tamar Hamburger, Naama Zvi, Morasha Plaser, Eilat Avital, Shani Breuier, Firase Elian, Azzam Salah, Yael Goldberg, Tamar Peretz
Hereditary cancer comprises more than 10% of all breast cancer cases. Identification of germinal mutations enables the initiation of a preventive program that can include early detection or preventive treatment and may also have a major impact on cancer therapy. Several recurrent mutations were identified in the BRCA1/2 genes in Jewish populations however, in other ethnic groups in Israel, no recurrent mutations were identified to date. Our group established panel sequencing in cancer patients to identify recurrent, founder, and new mutations in the heterogeneous and diverse populations in Israel, We evaluated five breast cancer patients of Arab descent diagnosed with cancer before the age of 50 years and identified the previously described TP53 mutation, c...
November 19, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27814975/smpd1-variants-in-chinese-han-patients-with-sporadic-parkinson-s-disease
#11
Cheng-Yuan Mao, Jing Yang, Hui Wang, Shu-Yu Zhang, Zhi-Hua Yang, Hai-Yang Luo, Fang Li, Mengmeng Shi, Yu-Tao Liu, Zheng-Ping Zhuang, Pan Du, Yao-He Wang, Chang-He Shi, Yu-Ming Xu
INTRODUCTION: A founder mutation, p.L302P, in sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), causing Niemann-Pick disease, a recessive lysosomal storage disorder, was reported to be associated with increased risk of Parkinson's disease (PD) in Ashkenazi Jewish population. Several other studies about the association between SMPD1 variants and PD were performed afterward in other populations. However, the results on the role of SMPD1 mutations for PD have been conflicting. This study aimed to investigate the role of mutations in SMPD1 in Chinese PD patients...
January 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27754802/diagnosis-of-abcc8-congenital-hyperinsulinism-of-infancy-in-a-20-year-old-man-evaluated-for-factitious-hypoglycemia
#12
Amichai Gutgold, David J Gross, Benjamin Glaser, Auryan Szalat
CONTEXT: Hypoglycemia is a rare event in healthy adults, and the differential diagnosis includes many diseases some of which are rare and easily missed. Description of the case: A 20 year-old male military paramedic was referred to our Emergency Department for the investigation of recurrent hypoglycemia episodes during the last months. Factitious hypoglycemia was excluded and organic hyperinsulinemic hypoglycemia was diagnosed by prolonged fast. Imaging studies (endoscopic ultrasound and triple-phase computed tomography) were normal...
October 18, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27749552/effect-of-brca-germline-mutations-on-breast-cancer-prognosis-a-systematic-review-and-meta-analysis
#13
Zora Baretta, Simone Mocellin, Elena Goldin, Olufunmilayo I Olopade, Dezheng Huo
BACKGROUND: The contribution of BRCA germline mutational status to breast cancer patients' prognosis is unclear. We aimed to systematically review and perform meta-analysis of the available evidence of effects of BRCA germline mutations on multiple survival outcomes of breast cancer patients as a whole and in specific subgroups of interest, including those with triple negative breast cancer, those with Ashkenazi Jewish ancestry, and patients with stage I-III disease. METHODS: Sixty studies met all inclusion criteria and were considered for this meta-analysis...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27747088/is-it-time-to-split-strategies-to-treat-homologous-recombinant-deficiency-in-pancreas-cancer
#14
REVIEW
Min Yuen Teo, Eileen M O'Reilly
Pancreatic cancer is a highly lethal malignancy which tends to present with late stage disease. To date, identification of oncogenic drivers and aberrations has not led to effective targeted therapy. Approximately 5-15% of pancreatic cancer has an inheritable component. In fact, pancreatic adenocarcinoma is now recognized as a BRCA1/2-related cancer. Germline BRCA1/2 mutations can be found in up to 3.6-7% of unselected pancreatic cancer patients although the rates are significantly higher amongst patients with Ashkenazi Jewish ancestry...
October 2016: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/27732723/homozygosity-for-a-recessive-loss-of-function-mutation-of-the-nrl-gene-is-associated-with-a-variant-of-enhanced-s-cone-syndrome
#15
Hadas Newman, Sergiu C Blumen, Itzhak Braverman, Rana Hanna, Beatrice Tiosano, Ido Perlman, Tamar Ben-Yosef
Purpose: To investigate the genetic basis for severe visual complaints by Bukharan Jewish patients with oculopharyngeal muscular dystrophy (OPMD). Methods: Polymerase chain reaction amplification and direct sequencing were used to test for NRL, PABPN1, and NR2E3 mutations. Complete ophthalmic examination included best-corrected visual acuity, biomicroscopic examination, optical coherence tomography, and fundus autofluorescence. Detailed electroretinography (ERG) testing was conducted including expanded International Society for Clinical Electrophysiology of Vision protocol for light-adapted and dark-adapted conditions, measurements of S-cone function, and ON-OFF light-adapted ERG...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27704292/a-population-specific-correlation-between-adipoq-rs2241766-and-rs-1501299-and-colorectal-cancer-risk-a-meta-analysis-for-debate
#16
Lin Ye, Guobin Wang, Yong Tang, Jie Bai
AIMS: Many epidemiological studies have investigated the correlation between adiponectin, C1Q and collagen domain containing (ADIPOQ) single nucleotide polymorphisms (SNPs) and risk of colorectal cancer (CRC). Although conflicting results have been reported, there was dispute regarding two SNPs (rs2241766 T/G and rs1501299 G/T). Therefore, we conducted a meta-analysis to systematically assess the associations and try to find the reasons for the dispute. METHODS: We searched PubMed, the Cochrane Library, Elsevier, Wiley Online Library, China National Knowledge Infrastructure, WanFang data and Chongqing VIP to search for all eligible case-control studies published up to January 2015...
October 4, 2016: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/27701760/chronic-granulomatous-disease-clinical-functional-molecular-and-genetic-studies-the-israeli-experience-with-84-patients
#17
Baruch Wolach, Ronit Gavrieli, Martin de Boer, Karin van Leeuwen, Sivan Berger-Achituv, Tal Stauber, Josef Ben Ari, Menachem Rottem, Yechiel Schlesinger, Galia Grisaru-Soen, Omar Abuzaitoun, Nufar Marcus, Ben Zion Garty, Arnon Broides, Jakov Levy, Polina Stepansky, Amos Etzioni, Raz Somech, Dirk Roos
Chronic granulomatous disease (CGD) is an innate immunodeficiency with a genetic defect of the nicotinamide adenosine dinucleotide phosphate, reduced, oxidase components. This leads to decreased reactive oxygen species (ROS) production, which renders patients susceptible to life-threatening infections. Over the course of 30 years, we diagnosed CGD in 84 patients from 61 families using functional, molecular, and genetic studies. The incidence of CGD in Israel is 1.05 per 100,000 live-births in the Jewish population and 1...
January 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/27692902/dnm3-and-genetic-modifiers-of-age-of-onset-in-lrrk2-gly2019ser-parkinsonism-a-genome-wide-linkage-and-association-study
#18
Joanne Trinh, Emil K Gustavsson, Carles Vilariño-Güell, Stephanie Bortnick, Jeanne Latourelle, Marna B McKenzie, Chelsea Szu Tu, Ekaterina Nosova, Jaskaran Khinda, Austen Milnerwood, Suzanne Lesage, Alexis Brice, Meriem Tazir, Jan O Aasly, Laura Parkkinen, Hazal Haytural, Tatiana Foroud, Richard H Myers, Samia Ben Sassi, Emna Hentati, Fatma Nabli, Emna Farhat, Rim Amouri, Fayçal Hentati, Matthew J Farrer
BACKGROUND: Leucine-rich repeat kinase 2 (LRRK2) mutation 6055G→A (Gly2019Ser) accounts for roughly 1% of patients with Parkinson's disease in white populations, 13-30% in Ashkenazi Jewish populations, and 30-40% in North African Arab-Berber populations, although age of onset is variable. Some carriers have early-onset parkinsonism, whereas others remain asymptomatic despite advanced age. We aimed to use a genome-wide approach to identify genetic variability that directly affects LRRK2 Gly2019Ser penetrance...
November 2016: Lancet Neurology
https://www.readbyqxmd.com/read/27659338/prevalence-of-common-mefv-mutations-and-carrier-frequencies-in-a-large-cohort-of-iranian-populations
#19
Maryam Beheshtian, Nasim Izadi, Gernot Kriegshauser, Kimia Kahrizi, Elham Parsi Mehr, Maryam Rostami, Masoumeh Hosseini, Maryam Azad, Mona Montajabiniat, Ariana Kariminejad, Stefan Nemeth, Christian Oberkanins, Hossein Najmabadi
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Armenian, Turkish, Jewish and Middle East Arab populations. To identify the frequency and the spectrum of common MEFV mutations in different Iranian populations, we investigated a cohort of 208 unselected asymptomatic individuals and 743 FMF patients. Nine hundred and fifty-one samples were analysed for the presence of 12 MEFV mutations by PCR and reverse-hybridization (FMF StripAssay, ViennaLab, Vienna, Austria)...
September 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27621663/identification-of-a-novel-pathogenic-otof-variant-causative-of-nonsyndromic-hearing-loss-with-high-frequency-in-the-ashkenazi-jewish-population
#20
Anastasia M Fedick, Chaim Jalas, Ananya Swaroop, Eric E Smouha, Bryn D Webb
Mutations in the OTOF gene have previously been shown to cause nonsyndromic prelingual deafness (DFNB9, OMIM 601071) as well as auditory neuropathy/dys-synchrony. In this study, the OTOF NM_194248.2 c.5332G>T, p.Val1778Phe variant was identified in a large Ashkenazi Jewish family as the causative variant in four siblings with hearing loss. Our analysis reveals a carrier frequency of the OTOF c.5332G>T, p.Val1778Phe variant of 1.27% in the Ashkenazi Jewish population, suggesting that this variant may be a significant contributor to nonsyndromic sensorineural hearing loss and should be considered for inclusion in targeted hearing loss panels for this population...
2016: Application of Clinical Genetics
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