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https://www.readbyqxmd.com/read/28211974/whole-exome-sequencing-identified-1-base-pair-novel-deletion-in-bcl2-associated-athanogene-3-bag3-gene-associated-with-severe-dilated-cardiomyopathy-dcm-requiring-heart-transplant-in-multiple-family-members
#1
Muhammad Arshad Rafiq, Ayeshah Chaudhry, Melanie Care, Danna A Spears, Chantal F Morel, Robert M Hamilton
Dilated cardiomyopathy (DCM) is characterized by dilation and impaired contraction of the left ventricle or both ventricles. Among hereditary DCM, the genetic causes are heterogeneous, and include mutations encoding cytoskeletal, nucleoskeletal, mitochondrial, and calcium-handling proteins. We report three severely affected males, in a four-generation pedigree, with DCM phenotype who underwent cardiac transplant. Cardiomegaly with marked biventricular dilation and fibrosis were noticeable histopathological findings...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211150/genomic-prediction-of-reproduction-traits-for-merino-sheep
#2
S Bolormaa, D J Brown, A A Swan, J H J van der Werf, B J Hayes, H D Daetwyler
Economically important reproduction traits in sheep, such as number of lambs weaned and litter size, are expressed only in females and later in life after most selection decisions are made, which makes them ideal candidates for genomic selection. Accurate genomic predictions would lead to greater genetic gain for these traits by enabling accurate selection of young rams with high genetic merit. The aim of this study was to design and evaluate the accuracy of a genomic prediction method for female reproduction in sheep using daughter trait deviations (DTD) for sires and ewe phenotypes (when individual ewes were genotyped) for three reproduction traits: number of lambs born (NLB), litter size (LSIZE) and number of lambs weaned...
February 17, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28199346/revertant-mosaicism-for-family-mutations-is-not-observed-in-brca1-2-phenocopies
#3
Jacopo Azzollini, Chiara Pesenti, Luca Ferrari, Laura Fontana, Mariarosaria Calvello, Bernard Peissel, Giorgio Portera, Silvia Tabano, Maria Luisa Carcangiu, Paola Riva, Monica Miozzo, Siranoush Manoukian
In BRCA1/2 families, early-onset breast cancer (BrCa) cases may be also observed among non-carrier relatives. These women are considered phenocopies and raise difficult counselling issues concerning the selection of the index case and the residual risks estimate in negative family members. Few studies investigated the presence of potential genetic susceptibility factors in phenocopies, mainly focussing on BrCa-associated single-nucleotide polymorphisms. We hypothesized that, as for other Mendelian diseases, a revertant somatic mosaicism, resulting from spontaneous correction of a pathogenic mutation, might occur also in BRCA pedigrees...
2017: PloS One
https://www.readbyqxmd.com/read/28198143/demographics-of-polycystic-kidney-disease-and-captive-population-viability-in-pygmy-hippopotamus-choeropsis-liberiensis
#4
Gabriella L Flacke, Joseph L Tomkins, Robert Black, Beatrice Steck
Polycystic kidney disease (PKD) was previously diagnosed at necropsy in several pygmy hippopotami (Choeropsis liberiensis) from the Smithsonian National Zoo and Zoo Basel, suggesting a threat to the long-term viability of the captive population. We determined the incidence and demographics of PKD in the captive population historically; we tested if the condition is linked to pedigree; we investigated mode of inheritance; we examined effects of PKD on longevity; we conducted survival analysis; and we examined long-term population viability...
February 15, 2017: Zoo Biology
https://www.readbyqxmd.com/read/28196731/natural-history-of-conversion-of-leber-s-hereditary-optic-neuropathy-a-prospective-case-series
#5
Tiffany Jean Hwang, Rustum Karanjia, Milton Nunes Moraes-Filho, Jesse Gale, Jeffrey Show Tran, Edward R Chu, Solange R Salomao, Adriana Berezovsky, Rubens Belfort, Milton Nunes Moraes, Federico Sadun, Anna Maria DeNegri, Chiara La Morgia, Piero Barboni, Carolina do V F Ramos, Carlos Filipe Chicani, Peter A Quiros, Valerio Carelli, Alfredo A Sadun
PURPOSE: To illustrate the natural history of Leber's hereditary optic neuropathy (LHON). DESIGN: Prospective observational case series. PARTICIPANTS: The Soave-Brazil pedigree of m.11778G>A/ND4 mitochondrial DNA LHON mutation. METHODS: A prospectively acquired database of the Soave-Brazil pedigree was reviewed. Data from 285 individuals were included in the database over a 15-year period. The pedigree was reviewed for unaffected mutation carriers who converted to affected status, 6 patients with LHON were identified...
February 10, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28196069/correction-pedigree-and-snp-associated-genetics-and-recent-environment-are-the-major-contributors-to-anthropometric-and-cardiometabolic-trait-variation
#6
Charley Xia, Carmen Amador, Jennifer Huffman, Holly Trochet, Archie Campbell, David Porteous, Generation Scotland, Nicholas D Hastie, Caroline Hayward, Veronique Vitart, Pau Navarro, Chris S Haley
[This corrects the article DOI: 10.1371/journal.pgen.1005804.].
February 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28193157/whole-genome-association-analysis-of-pork-meat-ph-revealed-three-significant-regions-and-several-potential-genes-in-finnish-yorkshire-pigs
#7
Lucas L Verardo, Marja-Liisa Sevón-Aimonen, Timo Serenius, Ville Hietakangas, Pekka Uimari
BACKGROUND: One of the most commonly used quality measurements of pork is pH measured 24 h after slaughter. The most probable mode of inheritance for this trait is oligogenic with several known major genes, such as PRKAG3. In this study, we used whole-genome SNP genotypes of over 700 AI boars; after a quality check, 42,385 SNPs remained for association analysis. All the boars were purebred Finnish Yorkshire. To account for relatedness of the animals, a pedigree-based relationship matrix was used in a mixed linear model to test the effect of SNPs on pH measured from loin...
February 13, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28193085/familial-restless-legs-syndrome-a-family-with-all-female-patients
#8
Cetin Kursad Akpinar, Hande Turker, Dursun Aygun, Emrah Aytac
BACKGROUND: Restless legs syndrome (RLS) is a chronic condition characterized by odd sensations in the body, most commonly in the legs and an irresistible urge to move them. More than half of the patients with RLS have a family history. Most of the RLS cases are women and most of the families show characteristics of an autosomal dominant pedigree. Here, we shall present a family consisting only of women; to our knowledge, such a family has not been reported yet. METHODS: The family presented here met the diagnosis criteria specified by International Restless Legs Syndrome Study Group (IRLSS)...
February 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28192794/the-genetic-causes-of-nonsyndromic-congenital-retinal-detachment-a-genetic-and-phenotypic-study-of-pakistani-families
#9
Vafa Keser, Ayesha Khan, Sorath Siddiqui, Irma Lopez, Huanan Ren, Raheel Qamar, Javad Nadaf, Jacek Majewski, Rui Chen, Robert K Koenekoop
Purpose: To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes responsible for the disease as currently only one NCRNA gene is known (atonal basic helix-loop-helix transcription factor 7: ATOH7). Methods: We implemented a three-step genotyping platform: single nucleotide polymorphism genotyping to identify loss of heterozygosity regions in patients, Retinal Information Network panel screening for mutations in currently known retinal genes...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28192783/androgen-insensitivity-syndrome-in-a-family-of-warmblood-horses-caused-by-a-25-bp-deletion-of-the-dna-binding-domain-of-the-androgen-receptor-gene
#10
G Eastman Welsford, Rikke Munk, Daniel A F Villagómez, Poul Hyttel, W Allan King, Tamas Revay
Testicular feminization, an earlier term coined for describing a syndrome resulting from failure of masculinization of target organs by androgen secretions during embryo development, has been well documented not only in humans but also in the domestic horse. The pathology, actually referred to as androgen insensitivity syndrome (AIS), has been proposed to follow an X-linked recessive pattern of inheritance in some horse breeds already investigated. Affected individuals are characterized by a female phenotype but with a stallion genotype of 64,XY SRY+ constitution...
February 14, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28192756/scn1a-clinical-spectrum-includes-the-self-limited-focal-epilepsies-of-childhood
#11
Sara Kivity, Karen L Oliver, Zaid Afawi, John A Damiano, Todor Arsov, Melanie Bahlo, Samuel F Berkovic
INTRODUCTION: Amongst autosomal dominant genetic epilepsy with febrile seizures plus (GEFS+) families, SCN1A variants are the most common genetic cause. Initially regarded as a generalized form of epilepsy, the GEFS+ spectrum is now known to include some focal epilepsies, but it is generally not conceptualized as extending to the self-limited focal epilepsies of childhood, such as Panayiotopoulos syndrome. There are, however, three reports of SCN1A variants in Panayiotopoulos syndrome...
February 4, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28191685/gene-based-segregation-method-for-identifying-rare-variants-in-family-based-sequencing-studies
#12
Dandi Qiao, Christoph Lange, Nan M Laird, Sungho Won, Craig P Hersh, Jarrett Morrow, Brian D Hobbs, Sharon M Lutz, Ingo Ruczinski, Terri H Beaty, Edwin K Silverman, Michael H Cho
Whole-exome sequencing using family data has identified rare coding variants in Mendelian diseases or complex diseases with Mendelian subtypes, using filters based on variant novelty, functionality, and segregation with the phenotype within families. However, formal statistical approaches are limited. We propose a gene-based segregation test (GESE) that quantifies the uncertainty of the filtering approach. It is constructed using the probability of segregation events under the null hypothesis of Mendelian transmission...
February 13, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28190494/suspected-x-linked-facial-dysmorphia-and-growth-retardation-in-related-labrador-retriever-puppies
#13
C Dierks, H Hoffmann, F Heinrich, M Hellige, M Hewicker-Trautwein, O Distl
Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival. Excessive doming of the cranium, brachygnathia superior and inferior, and an abnormally opened fontanelle were found in all affected puppies by computed tomography and at post-mortem examination. Pedigree analysis supported an X-linked recessive mode of inheritance...
February 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28190413/pedigree-analysis-of-the-turkish-arab-horse-population-structure-inbreeding-and-genetic-variability
#14
S Duru
The aim of this study was to evaluate genetic variability in the Turkish Arab horse population using pedigree information. This study is the first detailed pedigree analysis of the breed in Turkey. Pedigree data were collected from the National Studbook. The pedigree data for 23 668 horses, born between 1904 and 2014, were used in the analysis. From this data set, a reference population (RP) of 14 838 animals symbolising the last generation was defined. Demographic parameters, the inbreeding level (F), the average relatedness (AR), the effective population size (N e), the effective number of founders (f e), the effective number of ancestors (f a) and the number of founder genome equivalents (f g) were calculated for the population...
February 13, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28188191/payer-coverage-for-hereditary-cancer-panels-barriers-opportunities-and-implications-for-the-precision-medicine-initiative
#15
Julia R Trosman, Christine B Weldon, Michael P Douglas, Allison W Kurian, R Kate Kelley, Patricia A Deverka, Kathryn A Phillips
Background: Hereditary cancer panels (HCPs), testing for multiple genes and syndromes, are rapidly transforming cancer risk assessment but are controversial and lack formal insurance coverage. We aimed to identify payers' perspectives on barriers to HCP coverage and opportunities to address them. Comprehensive cancer risk assessment is highly relevant to the Precision Medicine Initiative (PMI), and payers' considerations could inform PMI's efforts. We describe our findings and discuss them in the context of PMI priorities...
February 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28188182/unstable-inheritance-of-45s-rrna-genes-in-arabidopsis-thaliana
#16
Fernando A Rabanal, Viktoria Nizhynska, Terezie Mandáková, Polina Yu Novikova, Martin A Lysak, Richard Mott, Magnus Nordborg
The considerable genome size variation in Arabidopsis thaliana has been shown largely to be due to copy number variation (CNV) in 45S ribosomal RNA (rRNA) genes. Surprisingly, attempts to map this variation by means of genome-wide association studies (GWAS) failed to identify either of the two likely sources, namely the nucleolar organizer regions (NORs). Instead, GWAS implicated a trans-acting locus, as if rRNA CNV was a phenotype rather than a genotype. To explain these results, we investigated the inheritance and stability of rRNA gene copy number using the variety of genetic resources available in A...
February 10, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28187711/poppante-population-and-pedigree-association-testing-for-quantitative-data
#17
Alessia Visconti, Mashael Al-Shafai, Wadha A Al Muftah, Shaza B Zaghlool, Massimo Mangino, Karsten Suhre, Mario Falchi
BACKGROUND: Family-based designs, from twin studies to isolated populations with their complex genealogical data, are a valuable resource for genetic studies of heritable molecular biomarkers. Existing software for family-based studies have mainly focused on facilitating association between response phenotypes and genetic markers, and no user-friendly tools are at present available to straightforwardly extend association studies in related samples to large datasets of generic quantitative data, as those generated by current -omics technologies...
February 10, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28187229/protein-deprivation-decreases-male-survival-and-the-intensity-of-sexual-antagonism-in-southern-field-crickets-gryllus-bimaculatus
#18
Chang S Han, Niels J Dingemanse
Recent theory predicts that the magnitude of sexual antagonism should depend on how well populations are adapted to their environment. We tested this idea experimentally by comparing intersexual genetic correlations for adult survival in pedigreed populations of Southern field crickets (Gryllus bimaculatus) raised on naturally balanced (free-choice) vs. imbalanced (protein-deprived) diets. We tested for 1) sex differences in nutritional intake and preference, 2) sex-specific effects of protein deprivation on survival and 3) diet-dependence of the level of sexual antagonism...
February 10, 2017: Journal of Evolutionary Biology
https://www.readbyqxmd.com/read/28186607/-clinical-features-and-mutations-of-ret-proto-oncogene-in-a-pedigree-affected-with-type-2a-multiple-endocrine-neoplasia
#19
Yong Zhang, Xiao Zheng, Liang Cheng, Shaogang Ma
OBJECTIVE: To investigate the clinical features and mutations of RET proto-oncogene in a pedigree affected with multiple endocrine neoplasia type 2A (MEN2A). METHODS: Clinical data of the family members was collected. Genomic DNA from peripheral blood leukocytes were extracted and subjected to PCR amplification. Exons 8, 10, 11, 13, 14, 15, 16 of the RET gene was sequenced. RESULTS: A missense mutation p.C634W was detected in 8 members from the family...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28186600/-analysis-of-ar-gene-mutation-in-a-family-affected-with-complete-androgen-insensitivity-syndrome-using-long-chain-rt-pcr
#20
Xiao Zhang, Jian Zeng, Yanhong Lin, Xiangdong Tu
OBJECTIVE: To identify potential mutation of androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS) and his family members. METHODS: Total RNA and genomic DNA were extracted from the peripheral blood samples derived from the proband and her family members. Sequences of 7 exons of the AR gene were amplified with reverse transcriptase PCR(RT-PCR) and subjected to direct sequencing. Suspected mutation was also analyzed with PCR-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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