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https://www.readbyqxmd.com/read/28705468/association-of-anti-inflammatory-cytokine-il10-polymorphisms-with-motoric-cognitive-risk-syndrome-in-an-ashkenazi-jewish-population
#1
Sanish Sathyan, Nir Barzilai, Gil Atzmon, Sofiya Milman, Emmeline Ayers, Joe Verghese
Motoric cognitive risk (MCR) syndrome is a newly described predementia syndrome characterized by the presence of cognitive complaints and slow gait, which is associated with increased risk of conversion to dementia. The underlying biological mechanisms for MCR have not yet been established. Neuroinflammation mediated through cytokines plays a pivotal role in the pathogenesis of dementia. Hence, our objective was to prospectively examine whether variations in cytokine genes (CRP, IFNG, IL1A, IL1B, IL4, IL6, IL10, IL18, TNF, and IL12A) play a role in MCR incidence in 530 community-dwelling Ashkenazi Jewish adults aged 65 years and older without MCR or dementia at baseline enrolled in the LonGenity study...
June 19, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28679692/an-unusual-genomic-variant-of-pancreatic-ductal-adenocarcinoma-with-an-indolent-clinical-course
#2
Zachary A Kohutek, Lauren M Rosati, Junguei Hong, Justin Poling, Marc A Attiyeh, Alvin Makohon-Moore, Joseph M Herman, Christine A Iacobuzio-Donahue
We describe an 85-yr-old male of Ashkenazi Jewish descent with biopsy-proven locally advanced pancreatic ductal adenocarcinoma (PDA). The patient underwent a modified course of gemcitabine and stereotactic body radiation therapy and survived for 42 mo with a stable pancreatic head mass and no evidence of metastatic disease before death due to complications from a stroke. Whole-exome sequencing of his tumor revealed a simple genome landscape with no evidence of mutations, copy-number changes, or structural alterations in genes most commonly associated with PDA (i...
July 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28647934/colorectal-and-endometrial-cancer-risk-and-age-at-diagnosis-in-blmash-mutation-carriers
#3
Hagit Schayek, Yael Laitman, Lior H Katz, Elon Pras, Liat Ries-Levavi, Frida Barak, Eitan Friedman
BACKGROUND: Biallelic BLM gene mutation carriers are at an increased risk for cancer, including colorectal cancer (CRC). Whether heterozygous BLM gene mutations confer an increased cancer risk remains controversial. OBJECTIVES: To evaluate CRC and endometrial cancer risk in BLM heterozygous mutation carriers. METHODS: Jewish Ashkenazim at high risk for colon or endometrial cancer and endometrial cancer cases unselected for family history were genotyped for the BLMAsh predominant mutation...
June 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28620870/severe-growth-deficiency-microcephaly-intellectual-disability-and-characteristic-facial-features-are-due-to-a-homozygous-qars-mutation
#4
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, Chana Vinkler, Keren Yosovich, Sarit Bahar, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev
Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. We have previously reported a new recessive syndrome of severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and intellectual disability in two sisters of Ashkenazi-Jewish origin (Eur J Med Genet 2014;57(6):288-92)...
June 15, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28620718/the-phenotypic-spectrum-of-arhgef9-includes-intellectual-disability-focal-epilepsy-and-febrile-seizures
#5
Karl Martin Klein, Manuela Pendziwiat, Anda Eilam, Ronit Gilad, Ilan Blatt, Felix Rosenow, Moien Kanaan, Ingo Helbig, Zaid Afawi
Mutations or structural genomic alterations of the X-chromosomal gene ARHGEF9 have been described in male and female patients with intellectual disability. Hyperekplexia and epilepsy were observed to a variable degree, but incompletely described. Here, we expand the phenotypic spectrum of ARHGEF9 by describing a large Ethiopian-Jewish family with epilepsy and intellectual disability. The four affected male siblings, their unaffected parents and two unaffected female siblings were recruited and phenotyped. Parametric linkage analysis was performed using SNP microarrays...
July 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28590779/oculopharyngeal-muscular-dystrophy-and-inherited-retinal-dystrophy-in-bukhara-jews-due-to-linked-mutations-in-the-pabpn1-and-nrl-genes
#6
Itzhak Braverman, Sergiu C Blumen, Hadas Newman, Leah Rizel, Morad Khayat, Rana Hanna, Jean Lacau St Guily, Beatrice Tiosano, Tamar Ben-Yosef
AIM: We have previously described two unrelated Bukhara Jews (BJs) with a combination of oculopharyngeal muscular dystrophy (OPMD) and inherited retinal dystrophy (IRD), because of mutations in two linked genes: PABPN1 and NRL. Here we investigated the prevalence of the NRL mutation among BJs with OPMD. MATERIALS AND METHODS: PABPN1 and NRL mutation testing were performed by polymerase chain reaction amplification and direct sequencing on two cohorts of Bukhara Jewish patients: OPMD patients (with or without IRD) and IRD patients (without OPMD)...
July 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28557584/nhs-gene-mutations-in-ashkenazi-jewish-families-with-nance-horan-syndrome
#7
Nadav Shoshany, Isaac Avni, Yair Morad, Chen Weiner, Adi Einan-Lifshitz, Eran Pras
PURPOSE: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. METHODS: Seven affected members were recruited. Medical history, clinical findings, and biometric measurements were recorded. Mutation analysis of the Nance-Horan syndrome (NHS) gene was performed by direct sequencing of polymerase chain reaction-amplified exons. RESULTS: An unusual anterior Y-sutural cataract was documented in the affected male proband...
May 30, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28511177/familial-hyperkalemia-and-hypertension-fhht-and-klhl3-description-of-a-family-with-a-new-recessive-mutation-s553l-compared-to-a-family-with-a-dominant-mutation-q309r-with-analysis-of-urinary-sodium-chloride-cotransporter
#8
Orit Kliuk-Ben Bassat, Vered Carmon, Aaron Hanukoglu, Liat Ganon, Eias Massalha, Eliezer J Holtzman, Zvi Farfel, Haim Mayan
BACKGROUND: Familial hyperkalemia and hypertension (FHHt) is an inherited disorder manifested by hyperkalemia and hypertension. The following four causative genes were identified: WNK1, WNK4, CUL3, and KLHL3. For the first 3 genes, inheritance is autosomal dominant. For KLHL3, inheritance is mostly dominant. A few cases with autosomal recessive disease were described. The mechanism of these 2 modes of inheritance is not clear. In the recessive form, the phenotype of heterozygotes is not well described...
May 17, 2017: Nephron
https://www.readbyqxmd.com/read/28502252/differential-analysis-of-mutations-in-the-jewish-population-and-their-implications-for-diseases
#9
Yaron Einhorn, Daphna Weissglas-Volkov, Shai Carmi, Harry Ostrer, Eitan Friedman, Noam Shomron
Sequencing large cohorts of ethnically homogeneous individuals yields genetic insights with implications for the entire population rather than a single individual. In order to evaluate the genetic basis of certain diseases encountered at high frequency in the Ashkenazi Jewish population (AJP), as well as to improve variant annotation among the AJP, we examined the entire exome, focusing on specific genes with known clinical implications in 128 Ashkenazi Jews and compared these data to other non-Jewish populations (European, African, South Asian and East Asian)...
May 15, 2017: Genetics Research
https://www.readbyqxmd.com/read/28495237/multigene-panels-in-ashkenazi-jewish-patients-yield-high-rates-of-actionable-mutations-in-multiple-non-brca-cancer-associated-genes
#10
Melissa K Frey, Gabriella Sandler, Rachel Sobolev, Sarah H Kim, Rachelle Chambers, Rebecca Y Bassett, Jessica Martineau, Katherine J Sapra, Leslie Boyd, John P Curtin, Bhavana Pothuri, Stephanie V Blank
OBJECTIVE: To evaluate the results of multigene panel testing among Ashkenazi Jewish compared with non-Ashkenazi Jewish patients. METHODS: We reviewed the medical records for all patients who underwent multigene panel testing and targeted BRCA1/2 testing at a single institution between 6/2013-1/2015. Clinical actionability for identified pathogenic mutations was characterized based on the National Comprehensive Cancer Network (NCCN) guidelines and consensus statements and expert opinion for genes not addressed by these guidelines...
July 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28481778/the-relationship-between-body-image-gender-subjective-norms-and-the-decision-to-undergo-preventive-mastectomy-among-arab-and-jewish-brca-carriers
#11
Majeda Kardosh, Yoram Bar-Tal, Sivia Barnoy
BACKGROUND: Carriers for a mutation in BRCA1/2 genes have a high, lifelong risk for developing breast cancer. Preventive mastectomy is considered an effective risk reduction surgery. Many factors might affect the decision to undergo preventive mastectomy, including culture, perceived body image after mastectomy and important others opinion. OBJECTIVE: The aim of this study is to evaluate BRCA mutation carriers' decision to undergo preventive mastectomy and the relationship between culture, gender, body image, and the decision...
May 5, 2017: Cancer Nursing
https://www.readbyqxmd.com/read/28473427/erg-and-oct-findings-of-a-patient-with-a-clinical-diagnosis-of-occult-macular-dystrophy-in-a-patient-of-ashkenazi-jewish-descent-associated-with-a-novel-mutation-in-the-gene-encoding-rp1l1
#12
Norman Saffra, Carly Jane Seidman, Aleksandr Rakhamimov, Stephen H Tsang
A 57-year-old man with a past medical history of diabetes presented for consultation with a several year history of slowly progressive vision loss in both eyes, which continued to deteriorate over 7 years of follow-up. Multimodal imaging was performed and was significant for the following: on spectral domain optical coherence tomography, a gap lesion was present in the ellipsoid layer, beneath the umbo, as well as subtle macular changes on auto fluorescence imaging. Multifocal electroretinography was performed and was abnormal, and a clinical diagnosis of occult macular dystrophy was made...
May 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28471621/automated-breast-volumetric-sonography-compared-with-magnetic-resonance-imaging-in-jewish-brca-1-2-mutation-carriers
#13
Osnat Halshtok Neiman, Zippy Erlich, Eitan Friedman, Arie Rundstein, Anat Shalmon, Yael Servadio, Miri Sklair Levy
BACKGROUND: Automated breast volumetric sonography (ABVS) is a new technology with various possible applications. OBJECTIVES: To compare ABVS and breast magnetic resonance imaging (MRI) in the surveillance of women with BRCA1/2 gene mutation carriers. METHODS: We conducted a prospective study in Jewish female BRCA1/2 mutation carriers who underwent breast MRI and ABVS. The results of both exams performed 6 months apart or less, and relevant clinical data, were reviewed...
October 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28397042/association-of-adipoq-and-adipor-variants-with-risk-of-colorectal-cancer-a-meta-analysis
#14
Xuan Tan, Guo-Bin Wang, Yong Tang, Jie Bai, Lin Ye
Numerous epidemiological studies have studied the association of adiponectin (ADIPOQ) gene and adiponectin receptor (ADIPOR) gene polymorphisms with risk of colorectal cancer (CRC), but the outcomes were incomplete and inconsistent. Therefore, we conducted a meta-analysis to assess the associations systematically. All eligible case-control studies published up to Jan. 2015 were searched from PubMed, the Cochrane library, Elsevier, Wiley Online library, China National Knowledge Infrastructure, WanFang data and Chongqing VIP...
April 2017: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/28302154/the-israeli-national-genetic-database-a-10-year-experience
#15
Joël Zlotogora, George P Patrinos
BACKGROUND: The Israeli National and Ethnic Mutation database ( http://server.goldenhelix.org/israeli ) was launched in September 2006 on the ETHNOS software to include clinically relevant genomic variants reported among Jewish and Arab Israeli patients. In 2016, the database was reviewed and corrected according to ClinVar ( https://www.ncbi.nlm.nih.gov/clinvar ) and ExAC ( http://exac.broadinstitute.org ) database entries. The present article summarizes some key aspects from the development and continuous update of the database over a 10-year period, which could serve as a paradigm of successful database curation for other similar resources...
March 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28281021/multi-gene-panel-testing-for-hereditary-cancer-predisposition-in-unsolved-high-risk-breast-and-ovarian-cancer-patients
#16
Beth Crawford, Sophie B Adams, Taylor Sittler, Jeroen van den Akker, Salina Chan, Ofri Leitner, Lauren Ryan, Elad Gil, Laura van 't Veer
PURPOSE: Many women with an elevated risk of hereditary breast and ovarian cancer have previously tested negative for pathogenic mutations in BRCA1 and BRCA2. Among them, a subset has hereditary susceptibility to cancer and requires further testing. We sought to identify specific groups who remain at high risk and evaluate whether they should be offered multi-gene panel testing. METHODS: We tested 300 women on a multi-gene panel who were previously enrolled in a long-term study at UCSF...
June 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28188302/vesicular-acetylcholine-transporter-defect-underlies-devastating-congenital-myasthenia-syndrome
#17
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...
March 14, 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
#18
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
#19
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)...
April 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#20
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...
March 2017: Epilepsia
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