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https://www.readbyqxmd.com/read/29318123/genetic-linkage-analysis-of-dfnb4-dfnb28-dfnb93-loci-in-autosomal-recessive-non-syndromic-hearing-loss-evidence-for-digenic-inheritance-in-gjb2-and-gjb3-mutations
#1
Marzieh Naseri, Masoud Akbarzadehlaleh, Marjan Masoudi, Najmeh Ahangari, Ali Akbar Poursadegh Zonouzi, Ahmad Poursadegh Zonouzi, Leila Shams, Azim Nejatizadeh
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) a most frequent hereditary type of hearing impairment, exhibit tremendous genetic heterogeneity. We aimed to determine the contribution of three common DFNB loci (DFNB4, DFNB28, and DFNB93), and mutation analysis of Gap Junction Beta-2 gene (GJB2) and GJB3 genes in ARNSHL subjects in southern Iran. Methods: Thirty-six large ARNSHL pedigrees (167 individuals) with at least two affected subjects (72 patients) were included in this descriptive study from Hormozgan Province of Iran, during 2014 - 2015...
January 2018: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/29315626/comparison-of-the-digene-hybrid-capture-2-and-roche-cobas-4800-hpv-tests-for-detection-of-cin2-in-a-referral-population-in-japan
#2
Toshiyuki Sasagawa, Toshiyuki Maehama, Yasuhiro Osaka, Jinichi Sakamoto, Takeo Shibata, Satoko Fujita, Masahiro Takakura, Hiroaki Takagi
To examine validity of the hybrid capture-2 and cobas 4800 HPV tests, 396 women including 188 women visiting for cancer screening, and 208 referral cases were examined with both HPV tests and the liquid-based cervical Pap test. Concordant results between the HPV assays were observed in 333 cases (coincident rates; 84.1%, kappa value; 0.682). The sensitivity for CIN2+ was 98.6% (69/70) and 82.9% (58/70) for HC2 and cobas 4800 (McNemar's test; P = 0.0026). The sensitivity for CIN3+ was 97.2% (35/36) and 83...
January 5, 2018: Journal of Medical Virology
https://www.readbyqxmd.com/read/29287868/germinal-mosaicism-of-pax3-mutation-caused-waardenburg-syndrome-type-i
#3
Kaitian Chen, Yuan Zhan, Xuan Wu, Ling Zong, Hongyan Jiang
OBJECTIVES: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. METHODS: Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29245966/digenic-mutations-on-scap-and-agxt2-predispose-to-premature-myocardial-infarction
#4
Yuanfeng Gao, Chongyou Lee, Junxian Song, Sufang Li, Yuxia Cui, Yongzhen Liu, Jie Wang, Fengmin Lu, Hong Chen
Genetic factors play a vital role in the pathogenesis of premature myocardial infarction (PMI). However, current studies explained only small amounts of genetic risk in MI. In this study, we started from a PMI pedigree with three MI patients occurred at the age of 43, 45 and 53 respectively. Sanger sequencing revealed 6 LDLR mutation carriers in the family, but only one was diagnosed with PMI, indicating that the LDLR mutation may not be the reason for PMI. Upon exome-sequencing and bioinformatics analysis, two variants in SCAP and AGXT2 were identified as potential causative mutation for PMI...
November 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/29240818/genetic-dissection-of-main-and-epistatic-effects-of-qtl-based-on-augmented-triple-test-cross-design
#5
Xueli Zhang, Congwei Sun, Zheng Zhang, Zhijun Dai, Yuan Chen, Xiong Yuan, Zheming Yuan, Wenbang Tang, Lanzhi Li, Zhongli Hu
The use of heterosis has considerably increased the productivity of many crops; however, the biological mechanism underpinning the technique remains elusive. The North Carolina design III (NCIII) and the triple test cross (TTC) are powerful and popular genetic mating design that can be used to decipher the genetic basis of heterosis. However, when using the NCIII design with the present quantitative trait locus (QTL) mapping method, if epistasis exists, the estimated additive or dominant effects are confounded with epistatic effects...
2017: PloS One
https://www.readbyqxmd.com/read/29221435/exploring-digenic-inheritance-in-arrhythmogenic-cardiomyopathy
#6
Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S Domingues, Elena Sommariva, Alessandra Rossini
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental factors. METHODS: We used whole exome sequencing to investigate digenic inheritance in two ACM families where previous diagnostic tests have revealed a PKP2 mutation in all affected and some healthy individuals...
December 8, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29180929/estimation-of-the-prevalence-and-distribution-of-hpv-genotypes-and-identification-of-related-risk-factors-among-turkish-women
#7
Mehmet Kulhan, Nur G Kulhan, Yasemin Seven, Umit A Nayki, Cenk Nayki, Nahit Ata, Pasa Ulug
Aim of the study: The present study aims to estimate the prevalence and distribution of HPV genotypes and identify related risk factors among Turkish women. Material and methods: 11 624 Turkish women attending our gynaecological clinic and expressing a desire for access to cervical cancer screening were assessed during the years 2014-2016. Cervical specimens were collected and transported using the HC2 HPV DNA Collection Device (consisting of a cervical brush and digene Specimen Transport Medium)...
2017: Contemporary Oncology Współczesna Onkologia
https://www.readbyqxmd.com/read/29179876/syndemic-synergy-of-hpv-and-other-sexually-transmitted-pathogens-in-the-development-of-high-grade-anal-squamous-intraepithelial-lesions
#8
Jenny C McCloskey, W Martin Kast, James P Flexman, Dugald McCallum, Martyn A French, Michael Phillips
BACKGROUND: Anal intraepithelial neoplasia is associated with high-risk human papillomavirus (hrHPV) as a precursor to anal cancer. However, factors other than hrHPV are likely to be involved and further study of cofactors is required because of the possibility of syndemic interactions. METHODS: Three hundred and fourteen patients underwent 457 operations. Histopathology and hrHPV testing using the Digene Hybrid Capture 2 (HC 2) method were performed. Demographic factors and sexually transmissible infections (STIs) were recorded...
December 2017: Papillomavirus Research
https://www.readbyqxmd.com/read/29106381/a-digenic-human-immunodeficiency-characterized-by-ifnar1-and-ifngr2-mutations
#9
Rodrigo Hoyos-Bachiloglu, Janet Chou, Catherine N Sodroski, Abdallah Beano, Wayne Bainter, Magdalena Angelova, Eman Al Idrissi, Murad K Habazi, Hamza Ali Alghamdi, Fahd Almanjomi, Mohamed Al Shehri, Nagi Elsidig, Morsi Alaa Eldin, David M Knipe, Mofareh AlZahrani, Raif S Geha
Primary immunodeficiencies are often monogenic disorders characterized by vulnerability to specific infectious pathogens. Here, we performed whole-exome sequencing of a patient with disseminated Mycobacterium tuberculosis, Streptococcus viridians bacteremia, and cytomegalovirus (CMV) viremia and identified mutations in 2 genes that regulate distinct IFN pathways. The patient had a homozygous frameshift deletion in IFNGR2, which encodes the signal transducing chain of the IFN-γ receptor, that resulted in minimal protein expression and abolished downstream signaling...
November 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29068479/genetic-profile-and-mutation-spectrum-of-leber-congenital-amaurosis-in-a-larger-indian-cohort-using-high-throughput-targeted-re-sequencing
#10
Natarajan N Srikrupa, Sundaramurthy Srilekha, Parveen Sen, Tharigopala Arokiasamy, Meenakshi Swaminathan, Muna Bhende, Suman Kapur, Nagasamy Soumittra
The prevalence of mutations in Leber congenital amaurosis (LCA) candidate genes varies in different populations and comprehensive data from a larger Indian cohort on known candidate genes is still unavailable. Ninety-two subjects were recruited after complete ophthalmic examination and informed consent. Targeted re-sequencing of 20 candidate genes was performed using Agilent HaloPlex target enrichment assay and sequenced on Ilumina MiSeq platform. The data was analyzed using standard bioinformatics pipeline, variants annotated, validated and segregated...
October 25, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29024829/distal-renal-tubular-acidosis-in-a-libyan-patient-evidence-for-digenic-inheritance
#11
Majdi Nagara, Gregory Papagregoriou, Rim Ben Abdallah, Zied Landoulsi, Yosra Bouyacoub, Sahar Elouej, Rym Kefi, Tommaso Pippucci, Konstantinos Voskarides, Anu Bashamboo, Kenneth McElreavey, Mongia Hachicha, Giovanni Romeo, Marco Seri, Constantinos Deltas, Sonia Abdelhak
AIM OF THE STUDY: Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in ATP6V1B1 and ATP6V0A4 are usually responsible for the recessive form of the disease. Mutations in gene AE1 encoding the Cl-/HCO3- exchanger, usually present as dominant dRTA, but a recessive pattern has been recently described. Our objective is to identify the mutational spectrum responsible of dRTA in a consanguineous Libyan family...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28979898/a-novel-mutation-in-foxc1-in-a-lebanese-family-with-congenital-heart-disease-and-anterior-segment-dysgenesis-potential-roles-for-nfatc1-and-dpt-in-the-phenotypic-variations
#12
Athar Khalil, Christiane Al-Haddad, Hadla Hariri, Kamel Shibbani, Fadi Bitar, Mazen Kurban, Georges Nemer, Mariam Arabi
Congenital heart diseases (CHDs) are still the leading cause of death in neonates. Anterior segment dysgenesis is a broad clinical phenotype that affects the normal development of the eye, leading in most of the cases to glaucoma which is still a major cause of blindness for children and adolescents. Despite tremendous insights gained from genetic studies, a clear genotype-phenotype correlation is still difficult to draw. In Lebanon, a small country with still a high rate of consanguineous marriages, there are little data on the epidemiology of glaucoma amongst children with or without CHD...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28977688/digenic-inheritance-and-genetic-modifiers
#13
REVIEW
Constantinos Deltas
Digenic inheritance (DI) concerns pathologies with the simplest form of multigenic aetiology, implicating more than one gene (and perhaps the environment). True DI is when biallelic or even triallelic mutations in two distinct genes, in cis or in trans, are necessary and sufficient to cause pathology with a defined diagnosis. In true DI, a heterozygous mutation in each of two genes alone is not associated with a recognizable phenotype. Well-documented diseases with true DI are so far rare and follow non-Mendelian inheritance...
October 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28953121/validity-parameters-of-the-human-papillomavirus-detection-test-hybrid-capture-2-with-and-without-cytology-after-laser-destruction-and-large-loop-excision-of-the-transformation-zone-treatment-of-high-grade-cervical-intraepithelial-neoplasia-lesions
#14
Johanna Hansen, Julia Waibel, Sylvia Timme, Gerald Gitsch, Michaela Bossart, Martin K Oehler, Maximilian Klar
OBJECTIVE: The aim of this study was to calculate the validity parameters of the Digene Hybrid Capture 2 (HC2) high-risk human papillomavirus DNA test with and without cytology in the follow-up examinations after laser treatment of the transformation zone or large loop excision of the transformation zone (LLETZ) for cervical intraepithelial neoplasia (CIN). METHODS: We performed a standardized follow-up examination in 113 postlaser and 153 post-LLETZ patients in our colposcopy clinic...
October 2017: Journal of Lower Genital Tract Disease
https://www.readbyqxmd.com/read/28945738/formation-of-a-tbx20-casz1-protein-complex-is-protective-against-dilated-cardiomyopathy-and-critical-for-cardiac-homeostasis
#15
Leslie Kennedy, Erin Kaltenbrun, Todd M Greco, Brenda Temple, Laura E Herring, Ileana M Cristea, Frank L Conlon
By the age of 40, one in five adults without symptoms of cardiovascular disease are at risk for developing congestive heart failure. Within this population, dilated cardiomyopathy (DCM) remains one of the leading causes of disease and death, with nearly half of cases genetically determined. Though genetic and high throughput sequencing-based approaches have identified sporadic and inherited mutations in a multitude of genes implicated in cardiomyopathy, how combinations of asymptomatic mutations lead to cardiac failure remains a mystery...
September 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28944608/coexistence-of-mutations-in-keratin-10-krt10-and-the-mitochondrial-genome-in-a-patient-with-ichthyosis-with-confetti-and-leber-s-hereditary-optic-neuropathy
#16
Agnieszka Kalinska-Bienias, Agnieszka Pollak, Cezary Kowalewski, Urszula Lechowicz, Piotr Stawinski, Aleksandra Gergont, Joanna Kosinska, Ewa Pronicka, Pawel Kowalski, Katarzyna Wozniak, Rafal Ploski
Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti-like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report a 16-year-old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening psycho-neurological symptoms (mental retardation, ataxia, dystonia, hypoacusis). The patient conspicuously lacked typical confetti-like spots at the age of 16...
November 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28944235/assessing-risk-for-mendelian-disorders-in-a-bronx-population
#17
Guy diSibio, Kinnari Upadhyay, Philip Meyer, Carole Oddoux, Harry Ostrer
BACKGROUND: To identify variants likely responsible for Mendelian disorders among the three major ethnic groups in the Bronx that might be useful to include in genetic screening panels or whole exome sequencing filters and to estimate their likely prevalence in these populations. METHODS: Variants from a high-density oligonucleotide screen of 192 members from each of the three ethnic-national populations (African Americans, Puerto Ricans, and Dominicans) were evaluated for overlap with next generation sequencing data...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28912110/the-genetics-of-congenitally-small-brains
#18
REVIEW
Sarah Duerinckx, Marc Abramowicz
Primary microcephaly (PM) refers to a congenitally small brain, resulting from insufficient prenatal production of neurons, and serves as a model disease for brain volumic development. Known PM genes delineate several cellular pathways, among which the centriole duplication pathway, which provide interesting clues about the cellular mechanisms involved. The general interest of the genetic dissection of PM is illustrated by the convergence of Zika virus infection and PM gene mutations on congenital microcephaly, with CENPJ/CPAP emerging as a key target...
September 12, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28911095/understanding-mutational-effects-in-digenic-diseases
#19
Andrea Gazzo, Daniele Raimondi, Dorien Daneels, Yves Moreau, Guillaume Smits, Sonia Van Dooren, Tom Lenaerts
To further our understanding of the complexity and genetic heterogeneity of rare diseases, it has become essential to shed light on how combinations of variants in different genes are responsible for a disease phenotype. With the appearance of a resource on digenic diseases, it has become possible to evaluate how digenic combinations differ in terms of the phenotypes they produce. All instances in this resource were assigned to two classes of digenic effects, annotated as true digenic and composite classes...
September 6, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28881388/autosomal-dominant-calpainopathy-due-to-heterozygous-capn3-c-643_663del21
#20
Jennifer M Martinez-Thompson, Zhiyv Niu, Jennifer A Tracy, Steven A Moore, Andrea Swenson, Eric D Wieben, Margherita Milone
INTRODUCTION: A calpain-3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb-girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe 3 families with AD calpainopathy carrying this isolated mutation. METHODS: Probands heterozygous for CAPN3 c.643_663del21 were identified by targeted next generation or whole exome sequencing. Clinical findings were collected for probands and families...
September 7, 2017: Muscle & Nerve
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