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https://www.readbyqxmd.com/read/29106381/a-digenic-human-immunodeficiency-characterized-by-ifnar1-and-ifngr2-mutations
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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 11, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28911095/understanding-mutational-effects-in-digenic-diseases
#11
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
#12
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
https://www.readbyqxmd.com/read/28864660/de-novo-digenic-mutations-of-telomere-associated-proteins-and-inflammasomes-initiate-many-chronic-human-diseases-a-hypothesis
#13
Vincent T Marchesi
Many age-related human diseases have inflammatory components of uncertain causes. It has been proposed that some may be initiated or sustained by doubly mutated immune cells that have both inappropriately activated inflammasomes and enhanced replicative potential. Genes of cells that express mutant TERT and NLRP3 proteins are presumed to be at increased risk for mutagenesis because they reside in subtelomeric regions of chromatin that are deficient in DNA repair mechanisms. Expanded clones of proinflammatory cells can occur throughout one's lifetime and could represent an alternative explanation for some forms of pathologic scarring that are now attributed to truncated telomeres...
September 1, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28807751/a-novel-pmca3-mutation-in-an-ataxic-patient-with-hypomorphic-phosphomannomutase-2-pmm2-heterozygote-mutations-biochemical-characterization-of-the-pump-defect
#14
Mattia Vicario, Tito Calì, Domenico Cieri, Francesca Vallese, Raissa Bortolotto, Raffaele Lopreiato, Francesco Zonta, Marta Nardella, Alessia Micalizzi, Dirk J Lefeber, Enza Maria Valente, Enrico Bertini, Giuseppe Zanotti, Ginevra Zanni, Marisa Brini, Ernesto Carafoli
The neuron-restricted isoform 3 of the plasma membrane Ca(2+) ATPase plays a major role in the regulation of Ca(2+) homeostasis in the brain, where the precise control of Ca(2+) signaling is a necessity. Several function-affecting genetic mutations in the PMCA3 pump associated to X-linked congenital cerebellar ataxias have indeed been described. Interestingly, the presence of co-occurring mutations in additional genes suggest their synergistic action in generating the neurological phenotype as digenic modulators of the role of PMCA3 in the pathologies...
August 12, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28805257/three-representative-inter-and-intra-subspecific-crosses-reveal-the-genetic-architecture-of-reproductive-isolation-in-rice
#15
Guangwei Li, Xiaoting Li, Yuan Wang, Jiaming Mi, Feng Xing, Dahan Zhang, Qiyan Dong, Xianghua Li, Jinghua Xiao, Qifa Zhang, Yidan Ouyang
Systematic characterization of genetic and molecular mechanisms in the formation of hybrid sterility is of fundamental importance in understanding reproductive isolation and speciation. Using ultra-high-density genetic maps, 43 single-locus quantitative trait loci (QTLs) and 223 digenic interactions for embryo-sac, pollen, and spikelet fertility are depicted from three crosses between representative varieties of japonica and two varietal groups of indica, which provide an extensive archive for investigating the genetic basis of reproductive isolation in rice...
November 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28801756/segregation-distortion-and-genome-wide-digenic-interactions-affect-transmission-of-introgressed-chromatin-from-wild-cotton-species
#16
Rahul Chandnani, Baohua Wang, Xavier Draye, Lisa K Rainville, Susan Auckland, Zhimin Zhuang, Edward L Lubbers, O Lloyd May, Peng W Chee, Andrew H Paterson
This study reports transmission genetics of chromosomal segments into Gossypium hirsutum from its most distant euploid relative, Gossypium mustelinum . Mutilocus interactions and structural rearrangements affect introgression and segregation of donor chromatin. Wild allotetraploid relatives of cotton are a rich source of genetic diversity that can be used in genetic improvement, but linkage drag and non-Mendelian transmission genetics are prevalent in interspecific crosses. These problems necessitate knowledge of transmission patterns of chromatin from wild donor species in cultivated recipient species...
August 11, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28783042/inborn-errors-in-rna-polymerase-iii-underlie-severe-varicella-zoster-virus-infections
#17
Benson Ogunjimi, Shen-Ying Zhang, Katrine B Sørensen, Kristian A Skipper, Madalina Carter-Timofte, Gaspard Kerner, Stefanie Luecke, Thaneas Prabakaran, Yujia Cai, Josephina Meester, Esther Bartholomeus, Nikhita Ajit Bolar, Geert Vandeweyer, Charlotte Claes, Yasmine Sillis, Lazaro Lorenzo, Raffaele A Fiorenza, Soraya Boucherit, Charlotte Dielman, Steven Heynderickx, George Elias, Andrea Kurotova, Ann Vander Auwera, Lieve Verstraete, Lieven Lagae, Helene Verhelst, Anna Jansen, Jose Ramet, Arvid Suls, Evelien Smits, Berten Ceulemans, Lut Van Laer, Genevieve Plat Wilson, Jonas Kreth, Capucine Picard, Horst Von Bernuth, Joël Fluss, Stephane Chabrier, Laurent Abel, Geert Mortier, Sebastien Fribourg, Jacob Giehm Mikkelsen, Jean-Laurent Casanova, Søren R Paludan, Trine H Mogensen
Varicella zoster virus (VZV) typically causes chickenpox upon primary infection. In rare cases, VZV can give rise to life-threatening disease in otherwise healthy people, but the immunological basis for this remains unexplained. We report 4 cases of acute severe VZV infection affecting the central nervous system or the lungs in unrelated, otherwise healthy children who are heterozygous for rare missense mutations in POLR3A (one patient), POLR3C (one patient), or both (two patients). POLR3A and POLR3C encode subunits of RNA polymerase III...
September 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28771248/interpreting-the-clinical-significance-of-combined-variants-in-multiple-recessive-disease-genes-systematic-investigation-of-joubert-syndrome-yields-little-support-for-oligogenicity
#18
Ian G Phelps, Jennifer C Dempsey, Megan E Grout, Christine R Isabella, Hannah M Tully, Dan Doherty, Ruxandra Bachmann-Gagescu
PurposeNext-generation sequencing (NGS) often identifies multiple rare predicted-deleterious variants (RDVs) in different genes associated with a recessive disorder in a given patient. Such variants have been proposed to contribute to digenicity/oligogenicity or "triallelism" or to act as genetic modifiers.MethodsUsing the recessive ciliopathy Joubert syndrome (JBTS) as a model, we investigated these possibilities systematically, relying on NGS of known JBTS genes in a large JBTS and two control cohorts.Results65% of affected individuals had a recessive genetic cause, while 4...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749435/allelic-complexity-in-long-qt-syndrome-a-family-case-study
#19
Alberto Zullo, Giulia Frisso, Nicola Detta, Berardo Sarubbi, Emanuele Romeo, Angela Cordella, Carlos G Vanoye, Raffaele Calabrò, Alfred L George, Francesco Salvatore
Congenital long QT syndrome (LQTS) is associated with high genetic and allelic heterogeneity. In some cases, more than one genetic variant is identified in the same (compound heterozygosity) or different (digenic heterozygosity) genes, and subjects with multiple pathogenic mutations may have a more severe disease. Standard-of-care clinical genetic testing for this and other arrhythmia susceptibility syndromes improves the identification of complex genotypes. Therefore, it is important to distinguish between pathogenic mutations and benign rare variants...
July 27, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28747464/lethal-digenic-mutations-in-the-k-channels-kir4-1-kcnj10-and-slack-kcnt1-associated-with-severe-disabling-seizures-and-neurodevelopmental-delay
#20
Sonia Hasan, Ameera Balobaid, Alessandro Grottesi, Omar Dabbagh, Marta Cenciarini, Rifaat Rawashdeh, Afaf Al-Sagheir, Cecilia Bove, Lara Macchioni, Mauro Pessia, Mohammed Al-Owain, Maria Cristina D'Adamo
A 2-yr-old boy presented profound developmental delay, failure to thrive, ataxia, hypotonia, and tonic-clonic seizures that caused the death of the patient. Targeted and whole exome sequencing revealed two heterozygous missense variants: a novel mutation in the KCNJ10 gene that encodes for the inward-rectifying K(+) channel Kir4.1 and another previously characterized mutation in KCNT1 that encodes for the Na(+)-activated K(+) channel known as Slo2.2 or SLACK. The objectives of this study were to perform the clinical and genetic characterization of the proband and his family and to examine the functional consequence of the Kir4...
October 1, 2017: Journal of Neurophysiology
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