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https://www.readbyqxmd.com/read/29156764/the-neil1-g83d-germline-dna-glycosylase-variant-induces-genomic-instability-and-cellular-transformation
#1
Heather A Galick, Carolyn G Marsden, Scott Kathe, Julie A Dragon, Lindsay Volk, Antonia A Nemec, Susan S Wallace, Aishwarya Prakash, Sylvie Doublié, Joann B Sweasy
Base excision repair (BER) is a key genome maintenance pathway. The NEIL1 DNA glycosylase recognizes oxidized bases, and likely removes damage in advance of the replication fork. The rs5745906 SNP of the NEIL1 gene is a rare human germline variant that encodes the NEIL1 G83D protein, which is devoid of DNA glycosylase activity. Here we show that expression of G83D NEIL1 in MCF10A immortalized but non-transformed mammary epithelial cells leads to replication fork stress. Upon treatment with hydrogen peroxide, we observe increased levels of stalled replication forks in cells expressing G83D NEIL1 versus cells expressing the wild-type (WT) protein...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29155992/ihh-gene-mutations-causing-short-stature-with-non-specific-skeletal-abnormalities-and-response-to-growth-hormone-therapy
#2
Gabriela A Vasques, Mariana F A Funari, Frederico M Ferreira, Miriam Aza-Carmona, Lucia Sentchordi-Montané, Jimena Barraza-García, Antonio M Lerario, Guilherme L Yamamoto, Michel S Naslavsky, Yeda A O Duarte, Debora R Bertola, Karen E Heath, Alexander A L Jorge
Context: Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders. Objective: To investigate the etiology of short stature and to determine the phenotype of patients with IHH mutations, including the response to growth hormone (rhGH) therapy. Patients and Methods: We studied 17 families with autosomal dominant short stature using whole exome sequencing and screened IHH defects in 290 patients with growth disorders...
November 15, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29155883/admixture-mapping-in-the-hispanic-community-health-study-study-of-latinos-reveals-regions-of-genetic-associations-with-blood-pressure-traits
#3
Tamar Sofer, Leslie J Baier, Sharon R Browning, Timothy A Thornton, Gregory A Talavera, Sylvia Wassertheil-Smoller, Martha L Daviglus, Robert Hanson, Sayuko Kobes, Richard S Cooper, Jianwen Cai, Daniel Levy, Alex P Reiner, Nora Franceschini
Admixture mapping can be used to detect genetic association regions in admixed populations, such as Hispanics/Latinos, by estimating associations between local ancestry allele counts and the trait of interest. We performed admixture mapping of the blood pressure traits systolic and diastolic blood pressure (SBP, DBP), mean arterial pressure (MAP), and pulse pressure (PP), in a dataset of 12,116 participants from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Hispanics/Latinos have three predominant ancestral populations (European, African, and Amerindian), for each of which we separately tested local ancestry intervals across the genome...
2017: PloS One
https://www.readbyqxmd.com/read/29155802/investigation-of-common-low-frequency-and-rare-genome-wide-variation-in-anorexia-nervosa
#4
L M Huckins, K Hatzikotoulas, L Southam, L M Thornton, J Steinberg, F Aguilera-McKay, J Treasure, U Schmidt, C Gunasinghe, A Romero, C Curtis, D Rhodes, J Moens, G Kalsi, D Dempster, R Leung, A Keohane, R Burghardt, S Ehrlich, J Hebebrand, A Hinney, A Ludolph, E Walton, P Deloukas, A Hofman, A Palotie, P Palta, F J A van Rooij, K Stirrups, R Adan, C Boni, R Cone, G Dedoussis, E van Furth, F Gonidakis, P Gorwood, J Hudson, J Kaprio, M Kas, A Keski-Rahonen, K Kiezebrink, G-P Knudsen, M C T Slof-Op 't Landt, M Maj, A M Monteleone, P Monteleone, A H Raevuori, T Reichborn-Kjennerud, F Tozzi, A Tsitsika, A van Elburg, D A Collier, P F Sullivan, G Breen, C M Bulik, E Zeggini
Anorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. To date, only one genome-wide significant locus associated with AN has been identified. We performed an exome-chip based genome-wide association studies (GWAS) in 2158 cases from nine populations of European origin and 15 485 ancestrally matched controls. Unlike previous studies, this GWAS also probed association in low-frequency and rare variants. Sixteen independent variants were taken forward for in silico and de novo replication (11 common and 5 rare)...
July 25, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/29154790/recognition-of-rare-hemoglobin-variants-by-hemoglobin-a1c-measurement-procedures
#5
Sydney W Strickland, Sean T Campbell, Randie R Little, David E Bruns, Lindsay A L Bazydlo
BACKGROUND: Unrecognized hemoglobinopathies can lead to measured hemoglobin A1c (Hb A1c) concentrations that are erroneous or misleading. We determined the effects of rare hemoglobin variants on capillary electrophoresis (CE) and HPLC methods for measurement of Hb A1c. METHODS: We prospectively investigated samples in which Hb A1c was measured by CE during a 14-month period. For samples in which the electropherograms suggested the presence of rare hemoglobinopathies, hemoglobin variants were identified by molecular analysis or by comparison with electropherograms of known variants...
November 14, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29154389/latent-autoimmune-diabetes-and-limbic-encephalitis-with-antibodies-against-glutamic-acid-decarboxylase
#6
Stoyan Popkirov, Seena Sebastian, Fatme Seval Ismail, Jörg Wellmer
Antibodies against glutamic acid decarboxylase (GAD) are a hallmark of type 1 diabetes and its late-onset variant, latent autoimmune diabetes of the adult (LADA).(1) While cerebrovascular disease and dementia are common causes of cognitive dysfunction and neurological deficits in diabetic patients,(2,3) rare autoimmune disorders of the central nervous system such as stiff-person syndrom or limbic encephalits can also occur on the basis of shared GAD autoimmunity.(4,5).
November 20, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/29154374/microcystic-transitional-cell-carcinoma-a-rare-tumor-of-the-urinary-bladder
#7
M Triki, L Ayadi, R Kallel, S Charfi, I Saguem, N Mhiri, T S Boudawara, N Gouiaa
Microcystic urothelial carcinoma is a rare variant of invasive transitional cell carcinoma recognized by the WHO classification. It is characterized by its deceptively benign appearance. The clinical course of this uncommon variety of carcinoma is not well known and their histological and immunohistological features are not well defined. We report a case of a 37-year-old man with a microcystic transitional cell carcinoma of the urinary bladder. He was diagnosed 4 years ago with cystitis glandularis lesions and nephrogenic adenoma...
September 2017: Pathologica
https://www.readbyqxmd.com/read/29153744/molecular-and-functional-characterization-of-familial-chylomicronemia-syndrome
#8
Ryota Teramoto, Hayato Tada, Masa-Aki Kawashiri, Atsushi Nohara, Takuya Nakahashi, Tetsuo Konno, Akihiro Inazu, Hiroshi Mabuchi, Masakazu Yamagishi, Kenshi Hayashi
BACKGROUND AND AIMS: Familial chylomicronemia syndrome is a rare autosomal recessive disorder leading to severe hypertriglyceridemia (HTG) due to mutations in lipoprotein lipase (LPL)-associated genes. Few data exist on the clinical features of the disorder or on comprehensive genetic approaches to uncover the causative genes and mutations. METHODS: Eight patients diagnosed with familial hyperchylomicronemia with recessive inheritance were included in this study (two males and six females; median age of onset 23...
November 14, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29152850/estimation-of-minimal-disease-prevalence-from-population-genomic-data-application-to-primary-familial-brain-calcification
#9
Gaël Nicolas, Camille Charbonnier, Dominique Campion, Joris A Veltman
Primary Familial Brain Calcification (PFBC) is a rare calcifying disorder of the brain with autosomal dominant inheritance, of unknown prevalence. Four causal genes have been identified so far: SLC20A2, PDGFB, PDGFRB, and XPR1, with pathogenic, probably pathogenic or missense variants of unknown significance found in 27.7% probands in the French PFBC series. Estimating PFBC prevalence from a clinical input is arduous due to a large diversity of symptoms and ages of onset and to incomplete clinical penetrance...
November 20, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29152586/genomic-transcriptomic-and-phenotypic-analyses-of-neisseria-meningitidis-isolates-from-disease-patients-and-their-household-contacts
#10
Xiaoyun Ren, David A Eccles, Gabrielle A Greig, Jane Clapham, Nicole E Wheeler, Stinus Lindgreen, Paul P Gardner, Joanna K MacKichan
Neisseria meningitidis (meningococcus) can cause meningococcal disease, a rapidly progressing and often fatal disease that can occur in previously healthy children. Meningococci are found in healthy carriers, where they reside in the nasopharynx as commensals. While carriage is relatively common, invasive disease, associated with hypervirulent strains, is a comparatively rare event. The basis of increased virulence in some strains is not well understood. New Zealand suffered a protracted meningococcal disease epidemic, from 1991 to 2008...
November 2017: MSystems
https://www.readbyqxmd.com/read/29152272/rare-behavior-of-follicular-variant-of-papillary-thyroid-cancer
#11
Hadeel Helmi, Hend Idrees, Ameen Alshehri, Abdulaziz Alsaif
Follicular variant of papillary thyroid cancer typically favors nodal spread. We report a case with hematogenous spread including multi-organ involvement and describe our staged management approach. This is the first case to report follicular variant of papillary thyroid cancer with simultaneous adrenal and renal involvement.
November 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29151244/identification-of-rare-noncoding-sequence-variants-in-gamma-aminobutyric-acid-a-receptor-alpha-4-subunit-in-autism-spectrum-disorder
#12
Anthony J Griswold, Derek Van Booven, Michael L Cuccaro, Jonathan L Haines, John R Gilbert, Margaret A Pericak-Vance
Alterations of the gamma-aminobutyric acid (GABA) signaling system has been strongly linked to the pathophysiology of autism spectrum disorder (ASD). Genetic associations of common variants in GABA receptor subunits, in particular GABRA4 on chromosome 4p12, with ASD have been replicated by several studies. Moreover, molecular investigations have identified altered transcriptional and translational levels of this gene and protein in brains of ASD individuals. Since the genotyped common variants are likely not the functional variants contributing to the molecular consequences or underlying ASD phenotype, this study aims to examine rare sequence variants in GABRA4, including those outside the protein coding regions of the gene...
November 18, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29151129/one-novel-and-two-uncommon-mefv-mutations-in-japanese-patients-with-familial-mediterranean-fever-a-clinicogenetic-study
#13
Dai Kishida, Masahide Yazaki, Akinori Nakamura, Fumio Nomura, Takeshi Kondo, Takanori Uehara, Masatomi Ikusaka, Akira Ohya, Norihiko Watanabe, Ryuta Endo, Satoshi Kawaai, Yasuhiro Shimojima, Yoshiki Sekijima
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. To date, over 317 MEFV mutations have been reported, only nine of which account for almost all Japanese patients with FMF. Therefore, the prevalence of rare MEFV variants and their clinical characteristics remains unclear. This study identified MEFV mutations previously unreported in the Japanese population and described their clinical features...
November 18, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29151085/a-novel-mutation-in-the-critical-p-box-residue-of-steroidogenic-factor-1-presenting-with-xy-sex-reversal-and-transient-adrenal-failure
#14
Anna S Orekhova, Natalia Kalinchenko, Ivan A Morozov, Evgeny V Vasilyev, Petr M Rubtsov, Ivan I Dedov, Anatoly Tiulpakov
BACKGROUND: Although the importance of steroidogenic factor-1 (SF1, NR5A1) for adrenal development is supported by numerous in vitro and in vivo studies, cases of SF1 deficiency associated with adrenal failure are exceptionally rare. The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. Here we describe another association of the "classic" SF1 phenotype with a novel NR5A1 mutation affecting G35 residue...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29150788/ck4-ck6-cyclin-d1-p16-ink4a-and-egfr-expression-in-glioblastoma-with-a-primitive-neuronal-component
#15
Guiyan Xu, Jian Yi Li
Glioblastoma with primitive neuroectodermal tumor-like component (GBM-PNET) is a rare variant of glioblastoma, which was renamed as glioblastoma with a primitive neuronal component (GBM-PN) in new WHO classification of tumours of the central nervous system in 2016. There are few publications on the investigation of GBM-PN. In this study, PCR mRNA arrays on 6 cases of conventional GBM and 10 cases of GBM-PN showed high mRNA level of CDK4 in GBM-PN and low mRNA level of EGFR in GBM-PN. Immunohistochemical stains on tissue microarrays with 28 cases of conventional GBM and 13 cases of GBM-PN demonstrated that CDK4 was selectively expressed in the primitive neuronal component of all GBM-PN cases while EGFR was positive in conventional GBM and glial component of GBM-PN, but was negative in the primitive neuronal component of all GBM-PN cases...
November 17, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29150242/anterior-inferior-cerebellar-artery-strokes-based-on-variant-vascular-anatomy-of-the-posterior-circulation-clinical-deficits-and-imaging-territories
#16
Melissa M Chen, Stephen R Chen, Pedro Diaz-Marchan, Donald Schomer, Vinodh A Kumar
We report imaging findings of 3 patients with anterior inferior cerebellar artery (AICA) infarcts who presented with atypical clinical findings of cerebellar strokes. AICA strokes are rare, and diagnosis can be difficult because of the high variability of the posterior circulation vascular anatomy. We describe the embryology and variant anatomy of AICA so that clinicians can understand and recognize the patterns of these infarcts.
November 14, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29150036/thoracic-surgery-considerations-in-the-child-and-young-adult
#17
REVIEW
Marvin D Atkins, Stephanie Fuller
Vascular rings and slings may represent life-threatening compression of the esophagus and trachea. Such anatomic variants, although rare, are encountered by all thoracic surgeons in the scope of their practice at some time. The thoracic surgeon, whether treating such patients in the practice of congenital heart surgery, or in the practice of adult cardiac or thoracic surgery must have a requisite understanding of such anatomic variants, their diagnostic workup and radiologic interpretation, as well as their surgical management...
February 2018: Thoracic Surgery Clinics
https://www.readbyqxmd.com/read/29149925/gastrointestinal-and-hepatic-disease-in-systemic-lupus-erythematosus
#18
REVIEW
Brian N Brewer, Diane L Kamen
Gastrointestinal (GI) symptoms are common among patients with systemic lupus erythematosus (SLE), although only rarely are they caused by active organ system involvement from SLE itself. Rapid diagnosis and appropriate treatment of lupus enteritis and other GI manifestations of SLE are critical, because of the potential for organ and life-threatening complications. The 3 main variants of lupus enteritis are lupus mesenteric vasculitis, intestinal pseudo-obstruction, and protein-losing enteropathy. These GI manifestations and others in patients with SLE are reviewed here...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149916/whole-exome-sequencing-in-amyotrophic-lateral-sclerosis-suggests-nek1-is-a-risk-gene-in-chinese
#19
Jacob Gratten, Qiongyi Zhao, Beben Benyamin, Fleur Garton, Ji He, Paul J Leo, Marie Mangelsdorf, Lisa Anderson, Zong-Hong Zhang, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Janette Edson, Ying-Ying Han, Jessica Harris, Anjali K Henders, Zi-Bing Jin, Zhongshan Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Bryan J Mowry, Shu Ran, David C Reutens, Sharon Song, Li-Jun Tan, Lu Tang, Robyn H Wallace, Lawrie Wheeler, Jinyu Wu, Jian Yang, Huji Xu, Peter M Visscher, Perry F Bartlett, Matthew A Brown, Naomi R Wray, Dongsheng Fan
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease characterised by the degeneration of motor neurons, which are responsible for voluntary movement. There remains limited understanding of disease aetiology, with median survival of ALS of three years and no effective treatment. Identifying genes that contribute to ALS susceptibility is an important step towards understanding aetiology. The vast majority of published human genetic studies, including for ALS, have used samples of European ancestry...
November 17, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29149870/first-case-report-of-cohen-syndrome-in-the-tunisian-population-caused-by-vps13b-mutations
#20
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants...
November 17, 2017: BMC Medical Genetics
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