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https://www.readbyqxmd.com/read/29773520/frequency-of-gjb2-mutations-in-patients-with-nonsyndromic-hearing-loss-from-an-ethnically-characterized-brazilian-population
#1
Felippe Felix, Marcia Gonçalves Ribeiro, Shiro Tomita, Mariano Gustavo Zalis
INTRODUCTION: In different parts of the world, mutations in the GJB2 gene are associated with nonsyndromic hearing loss, and the homozygous 35delG mutation (p.Gly12Valfs*2) is a major cause of hereditary hearing loss. However, the 35delG mutation is not equally prevalent across ethnicities, making it important to study other mutations, especially in multiethnic countries such as Brazil. OBJECTIVE: This study aimed to identify different mutations in the GJB2 gene in patients with severe to profound nonsyndromic sensorineural hearing loss of putative genetic origin, and who were negative or heterozygote for the 35delG mutation...
November 21, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/29765957/genetic-insights-into-frailty-association-of-9p21-23-locus-with-frailty
#2
Sanish Sathyan, Nir Barzilai, Gil Atzmon, Sofiya Milman, Emmeline Ayers, Joe Verghese
Frailty is a complex aging phenotype associated with increased vulnerability to disability and death. Understanding the biological antecedents of frailty may provide clues to healthy aging. The genome-wide association study hotspot, 9p21-23 region, is a risk locus for a number of age-related complex disorders associated with frailty. Hence, we conducted an association study to examine whether variations in 9p21-23 locus plays a role in the pathogenesis of frailty in 637 community-dwelling Ashkenazi Jewish adults aged 65 and older enrolled in the LonGenity study...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29706639/carrier-frequency-analysis-of-mutations-causing-autosomal-recessive-inherited-retinal-diseases-in-the-israeli-population
#3
Mor Hanany, Gilad Allon, Adva Kimchi, Anat Blumenfeld, Hadas Newman, Eran Pras, Ohad Wormser, Ohad S Birk, Libe Gradstein, Eyal Banin, Tamar Ben-Yosef, Dror Sharon
Inherited retinal diseases (IRDs) are heterogeneous phenotypes caused by variants in a large number of genes. Disease prevalence and the frequency of carriers in the general population have been estimated in only a few studies, but are largely unknown. To this end, we developed two parallel methods to calculate carrier frequency for mutations causing autosomal-recessive (AR) IRDs in the Israeli population. We created an SQL database containing information on 178 genes from gnomAD (including genotyping of 5706 Ashkenazi Jewish (AJ) individuals) and our cohort of >2000 families with IRDs...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29603880/fmr1-premutation-frequency-in-a-large-ethnically-diverse-population-referred-for-carrier-testing
#4
Kailey M Owens, Lindsay Dohany, Carol Holland, Jeana DaRe, Tobias Mann, Christina Settler, Ryan E Longman
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and is caused by an expansion of cytosine-guanine-guanine (CGG) repeats in the FMR1 gene. Female premutation allele carriers (55-200 CGG repeats) are at risk to have an affected child. Currently, specific population-based carrier screening for FXS is not recommended. Previous studies exploring female premutation carrier frequency have been limited by size or ethnicity. This retrospective study provides a pan-ethnic estimate of the Fragile X premutation carrier frequency in a large, ethnically diverse population of women referred for routine carrier screening during a specified time period at Progenity, Inc...
March 31, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29600982/variant-of-rare-hermansky-pudlak-syndrome-associated-with-granulomatous-colitis-diagnostics-clinical-course-and-treatment
#5
L Y Lozynska, A Plawski, M R Lozynska, I Vytvytskyi, R Y Lozynskyi, N Prokopchuk, B Tretiak
AIM: To study the relationship between the genotype and the phenotype in the patients with Hermansky - Pudlak syndrome (HPS) associated with granulomatous colitis; to monitor clinical course of the disease for adequate treatment, cancer surveillance and genetic counseling. MATERIALS AND METHODS: The diagnosis of HPS is established by physical examination, chest X-ray, computed tomography, endoscopic examination with biopsy, and laboratory tests, including histology, baseline laboratory blood, urine and feces tests, determination of ASCA-C and ANCA antibodies using an ELISA...
March 2018: Experimental Oncology
https://www.readbyqxmd.com/read/29584789/the-effect-of-cag-repeats-length-on-differences-in-hirsutism-among-healthy-israeli-women-of-different-ethnicities
#6
Naomi Weintrob, Ori Eyal, Meital Slakman, Anat Segev Becker, Galit Israeli, Ofra Kalter-Leibovici, Shay Ben-Shachar
PURPOSE: Variations in the degree of hirsutism among women of different ethnic backgrounds may stem from multiple etiologies. Shorter length of the polymorphic CAG repeats of the androgen receptor (AR) gene may be associated with increased activity of the receptor leading to hirsutism. We hypothesized that there are ethnic differences in the degree of hirsutism that is unrelated to androgen levels among Israeli women, and that the CAG repeats length may contribute to these differences...
2018: PloS One
https://www.readbyqxmd.com/read/29568109/mitochondrial-inefficiency-in-infants-born-to-overweight-african-american-mothers
#7
Manjusha Abraham, Christina A Collins, Scott Flewelling, Maraya Camazine, Alison Cahill, W Todd Cade, Jennifer G Duncan
BACKGROUND: Currently 20-35% of pregnant women are obese, posing a major health risk for mother and fetus. It is postulated that an abnormal maternal-fetal nutritional environment leads to adverse metabolic programming, resulting in altered substrate metabolism in the offspring and predisposing to risks of obesity and diabetes later in life. Data indicate that oocytes from overweight animals have abnormal mitochondria. We hypothesized that maternal obesity is associated with altered mitochondrial function in healthy neonatal offspring...
March 3, 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29560538/mutational-analysis-of-candidate-genes-in-israeli-male-breast-cancer-cases
#8
Hagit Schayek, Hila Korach, Yael Laitman, Rinat Bernstein-Molho, Eitan Friedman
PURPOSE: To define the mutational spectrum of several candidate gene mutations in Israeli male breast cancer cases. METHODS: MBC cases counselled at the Oncogenetics unit, Sheba Medical Center from January 1998 to June 2017 were included. Relevant clinical and oncological data and cancer phenotype were retrieved. All participants were genotyped for the predominant Jewish BRCA1 and BRCA2 germline mutations using a chip-based assay. Those who tested negative were further genotyped for three recurring mutations in CHEK2 (c...
March 21, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29422393/a-de-novo-gabra2-missense-mutation-in-severe-early-onset-epileptic-encephalopathy-with-a-choreiform-movement-disorder
#9
Naama Orenstein, Hadassa Goldberg-Stern, Rachel Straussberg, Lily Bazak, Monika Weisz Hubshman, Nesia Kropach, Oded Gilad, Oded Scheuerman, Yahav Dory, Dror Kraus, Shay Tzur, Nurit Magal, Yael Kilim, Vered Shkalim Zemer, Lina Basel-Salmon
BACKGROUND: Early-onset epileptic encephalopathy (EOEE) is a severe convulsive disorder with a poor developmental prognosis. Although it has been associated with mutations in a number of genes, the fact that there is a large proportion of patients who remain undiagnosed suggests that there are many more still-unknown genetic causes of EOEE. Achieving a genetic diagnosis is important for understanding the biological basis of the disease, with its implications for treatment and family planning...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29406847/outer-limits-of-biotechnologies-a-jewish-perspective
#10
John D Loike, Alan Kadish
A great deal of biomedical research focuses on new biotechnologies such as gene editing, stem cell biology, and reproductive medicine, which have created a scientific revolution. While the potential medical benefits of this research may be far-reaching, ethical issues related to non-medical applications of these technologies are demanding. We analyze, from a Jewish legal perspective, some of the ethical conundrums that society faces in pushing the outer limits in researching these new biotechnologies.
January 29, 2018: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/29374875/-trmu-mutations-reversible-infantile-liver-failure-or-multisystem-disorder
#11
Merav Gil-Margolis, Yael Mozer-Glassberg, Ana Tobar, Shai Ashkenazi, Avraham Zeharia, Daphna Marom
INTRODUCTION: Bi-allelic mutations in the TRMU gene cause reversible infantile liver failure. Little is known about extra-hepatic manifestations in these patients. BACKGROUND: Two infants, aged 4 and 5 months, presented with progressive life threatening liver failure, characterized by lactic acidosis, highly elevated alpha-fetoprotein and recurrent hypoglycemia. Both showed significant extra-hepatic findings, including: hypothyroidism, macrocytic anemia and microcephaly...
January 2018: Harefuah
https://www.readbyqxmd.com/read/29361167/a-novel-mechanism-causing-imbalance-of-mitochondrial-fusion-and-fission-in-human-myopathies
#12
Marina Bartsakoulia, Angela Pyle, Diego Troncoso-Chandía, Josefa Vial-Brizzi, Marysol V Paz-Fiblas, Jennifer Duff, Helen Griffin, Veronika Boczonadi, Hanns Lochmüller, Stephanie Kleinle, Patrick F Chinnery, Sarah Grünert, Janbernd Kirschner, Verónica Eisner, Rita Horvath
Mitochondrial dynamics play an important role in cellular homeostasis and a variety of human diseases are linked to its dysregulated function. Here, we describe a 15-year-old boy with a novel disease caused by altered mitochondrial dynamics. The patient was the second child of consanguineous Jewish parents. He developed progressive muscle weakness and exercise intolerance at 6 years of age. His muscle biopsy revealed mitochondrial myopathy with numerous ragged red and cytochrome c oxidase (COX) negative fibers and combined respiratory chain complex I and IV deficiency...
April 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29339979/-brca1-and-brca2-mutation-spectrum-an-update-on-mutation-distribution-in-a-large-cancer-genetics-clinic-in-norway
#13
Cecilie Heramb, Teresia Wangensteen, Eli Marie Grindedal, Sarah Louise Ariansen, Sheba Lothe, Ketil Riddervold Heimdal, Lovise Mæhle
Background: Founder mutations in the two breast cancer genes, BRCA1 and BRCA2 , have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients with relevant ancestry has been a cost-efficient approach in such populations. Four Norwegian BRCA1 founder mutations were defined by haplotyping in 2001, and accounted for 68% of BRCA1 mutation carriers at the time. After 15 more years of genetic testing, updated knowledge on the mutation spectrum of both BRCA1 and BRCA2 in Norway is needed...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29321258/functional-variants-in-the-lrrk2-gene-confer-shared-effects-on-risk-for-crohn-s-disease-and-parkinson-s-disease
#14
Ken Y Hui, Heriberto Fernandez-Hernandez, Jianzhong Hu, Adam Schaffner, Nathan Pankratz, Nai-Yun Hsu, Ling-Shiang Chuang, Shai Carmi, Nicole Villaverde, Xianting Li, Manual Rivas, Adam P Levine, Xiuliang Bao, Philippe R Labrias, Talin Haritunians, Darren Ruane, Kyle Gettler, Ernie Chen, Dalin Li, Elena R Schiff, Nikolas Pontikos, Nir Barzilai, Steven R Brant, Susan Bressman, Adam S Cheifetz, Lorraine N Clark, Mark J Daly, Robert J Desnick, Richard H Duerr, Seymour Katz, Todd Lencz, Richard H Myers, Harry Ostrer, Laurie Ozelius, Haydeh Payami, Yakov Peter, John D Rioux, Anthony W Segal, William K Scott, Mark S Silverberg, Jeffery M Vance, Iban Ubarretxena-Belandia, Tatiana Foroud, Gil Atzmon, Itsik Pe'er, Yiannis Ioannou, Dermot P B McGovern, Zhenyu Yue, Eric E Schadt, Judy H Cho, Inga Peter
Crohn's disease (CD), a form of inflammatory bowel disease, has a higher prevalence in Ashkenazi Jewish than in non-Jewish European populations. To define the role of nonsynonymous mutations, we performed exome sequencing of Ashkenazi Jewish patients with CD, followed by array-based genotyping and association analysis in 2066 CD cases and 3633 healthy controls. We detected association signals in the LRRK2 gene that conferred risk for CD (N2081D variant, P = 9.5 × 10-10 ) or protection from CD (N551K variant, tagging R1398H-associated haplotype, P = 3...
January 10, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29276794/the-role-of-dietary-patterns-and-exceptional-parental-longevity-in-healthy-aging
#15
Sriram Gubbi, Nir Barzilai, Jill Crandall, Joe Verghese, Sofiya Milman
BACKGROUND: Individuals with exceptional longevity and their offspring manifest a lower prevalence of age-related diseases than families without longevity. However, the contribution of dietary habits to protection from disease has not been systematically assessed in families with exceptional longevity. OBJECTIVE: The aim of this study is to compare dietary patterns between individuals with parental longevity and individals without parental longevity. METHODS: Dietary intake was evaluated using the Block Brief Food Frequency Questionnaire in 234 community dwelling Ashkenazi Jewish adults aged 65 years and older who were participants of the LonGenity study, which enrolls the offspring of parents with exceptional longevity (OPEL) and offspring of parents with usual survival (OPUS)...
December 7, 2017: Nutrition and Healthy Aging
https://www.readbyqxmd.com/read/29276708/association-between-sleep-patterns-and-health-in-families-with-exceptional-longevity
#16
Lavy Klein, Tina Gao, Nir Barzilai, Sofiya Milman
Background: Sleep patterns such as longer sleep duration or napping are associated with poor health outcomes. Although centenarians and their offspring demonstrate a delayed onset of age-related diseases, it is not known whether they have healthier sleep patterns or are protected against the negative effects of sleep disturbances. Methods: Data on sleep patterns and health history were collected from Ashkenazi Jewish subjects of the Longevity Genes Project using standardized questionnaires...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/29276052/nonsyndromic-retinitis-pigmentosa-in-the-ashkenazi-jewish-population-genetic-and-clinical-aspects
#17
Adva Kimchi, Samer Khateb, Rong Wen, Ziqiang Guan, Alexey Obolensky, Avigail Beryozkin, Shoshi Kurtzman, Anat Blumenfeld, Eran Pras, Samuel G Jacobson, Tamar Ben-Yosef, Hadas Newman, Dror Sharon, Eyal Banin
PURPOSE: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype-phenotype correlations. DESIGN: Cohort study. PARTICIPANTS: Retinitis pigmentosa patients from 230 families of AJ origin. METHODS: Sanger sequencing was performed to detect specific founder mutations known to be prevalent in the AJ population. Ophthalmologic analysis included a comprehensive clinical examination, visual acuity (VA), visual fields, electroretinography, color vision testing, and retinal imaging by OCT, pseudocolor, and autofluorescence fundus photography...
December 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29193502/foxp3-mutations-causing-early-onset-insulin-requiring-diabetes-but-without-other-features-of-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome
#18
Jessica L Hwang, Soo-Young Park, Honggang Ye, May Sanyoura, Ashley N Pastore, David Carmody, Daniela Del Gaudio, Janna F Wilson, Craig L Hanis, Xiaoming Liu, Gil Atzmon, Benjamin Glaser, Louis H Philipson, Siri Atma W Greeley
Diabetes occurs in 1/90 000 to 1/160 000 births and when diagnosed under 6 months of age is very likely to have a primary genetic cause. FOXP3 encodes a transcription factor critical for T regulatory cell function and mutations are known to cause "immune dysregulation, polyendocrinopathy (including insulin-requiring diabetes), enteropathy, X-linked" (IPEX) syndrome. This condition is often fatal unless patients receive a bone-marrow transplant. Here we describe the phenotype of male neonates and infants who had insulin-requiring diabetes without other features of IPEX syndrome and were found to have mutations in FOXP3...
November 29, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/29153277/a-novel-rogdi-gene-mutation-is-associated-with-kohlschutter-tonz-syndrome
#19
Nalini Aswath, Sankar Narayanan Ramakrishnan, Nithya Teresa, Arvind Ramanathan
OBJECTIVE: Kohlschutter-tonz syndrome (KTS) is a rare neurodegenerative disorder that presents with seizures, developmental regression, characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta and dysmorphologies. Genetic analysis has identified loss-of-function mutations within the coding region of the ROGDI gene in KTS patients of European or Jewish decent. In the present study, we have investigated the genetic status of ROGDI in a fourteen year old South Indian patient of Dravidian race born to consanguineous parents, who was clinically diagnosed with KTS STUDY DESIGN: To confirm the clinical diagnosis of KTS in the patient, primers were designed flanking each of the 11 exons of the ROGDI gene...
January 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29144512/ashkenazi-jewish-genomic-variants-integrating-data-from-the-israeli-national-genetic-database-and-gnomad
#20
Joël Zlotogora, George P Patrinos, Vardiella Meiner
PurposeThe aim of the study was to compare the data for mutations related to clinical disorders reported among Ashkenazi Jewish patients in the Israeli National Genetic Database (INGD) with variants included in the Genome Aggregation Database (gnomAD).MethodsWe extracted data for mutations claimed to cause disorders reported among Ashkenazi Jews from the INGD and searched gnomAD for each of them. We compared the allele frequency of each variant in Ashkenazi Jews with that of other delineated populations.ResultsOf the 58 INGD-reported mutations related to autosomal-dominant disorders, 19 were present in gnomAD (32...
November 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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