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https://www.readbyqxmd.com/read/28087269/mitochondrial-roles-of-the-psychiatric-disease-risk-factor-disc1
#1
REVIEW
R Norkett, S Modi, J T Kittler
Ion transport during neuronal signalling utilizes the majority of the brain's energy supply. Mitochondria are key sites for energy provision through ATP synthesis and play other important roles including calcium buffering. Thus, tightly regulated distribution and function of these organelles throughout the intricate architecture of the neuron is essential for normal synaptic communication. Therefore, delineating mechanisms coordinating mitochondrial transport and function is essential for understanding nervous system physiology and pathology...
January 10, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28086790/rna-sequencing-for-global-gene-expression-associated-with-muscle-growth-in-a-single-male-modern-broiler-line-compared-to-a-foundational-barred-plymouth-rock-chicken-line
#2
Byung-Whi Kong, Nicholas Hudson, Dongwon Seo, Seok Lee, Bhuwan Khatri, Kentu Lassiter, Devin Cook, Alissa Piekarski, Sami Dridi, Nicholas Anthony, Walter Bottje
BACKGROUND: Modern broiler chickens exhibit very rapid growth and high feed efficiency compared to unselected chicken breeds. The improved production efficiency in modern broiler chickens was achieved by the intensive genetic selection for meat production. This study was designed to investigate the genetic alterations accumulated in modern broiler breeder lines during selective breeding conducted over several decades. METHODS: To identify genes important in determining muscle growth and feed efficiency in broilers, RNA sequencing (RNAseq) was conducted with breast muscle in modern pedigree male (PeM) broilers (n = 6 per group), and with an unselected foundation broiler line (Barred Plymouth Rock; BPR)...
January 13, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28081208/optimizing-training-population-size-and-genotyping-strategy-for-genomic-prediction-using-association-study-results-and-pedigree-information-a-case-of-study-in-advanced-wheat-breeding-lines
#3
Fabio Cericola, Ahmed Jahoor, Jihad Orabi, Jeppe R Andersen, Luc L Janss, Just Jensen
Wheat breeding programs generate a large amount of variation which cannot be completely explored because of limited phenotyping throughput. Genomic prediction (GP) has been proposed as a new tool which provides breeding values estimations without the need of phenotyping all the material produced but only a subset of it named training population (TP). However, genotyping of all the accessions under analysis is needed and, therefore, optimizing TP dimension and genotyping strategy is pivotal to implement GP in commercial breeding schemes...
2017: PloS One
https://www.readbyqxmd.com/read/28079935/regional-heritability-mapping-and-genome-wide-association-identify-loci-for-complex-growth-wood-and-disease-resistance-traits-in-eucalyptus
#4
Rafael Tassinari Resende, Marcos Deon Vilela Resende, Fabyano Fonseca Silva, Camila Ferreira Azevedo, Elizabete Keiko Takahashi, Orzenil Bonfim Silva-Junior, Dario Grattapaglia
Although genome-wide association studies (GWAS) have provided valuable insights into the decoding of the relationships between sequence variation and complex phenotypes, they have explained little heritability. Regional heritability mapping (RHM) provides heritability estimates for genomic segments containing both common and rare allelic effects that individually contribute too little variance to be detected by GWAS. We carried out GWAS and RHM for seven growth, wood and disease resistance traits in a breeding population of 768 Eucalyptus hybrid trees using EuCHIP60K...
February 2017: New Phytologist
https://www.readbyqxmd.com/read/28078310/polg2-deficiency-causes-adult-onset-syndromic-sensory-neuropathy-ataxia-and-parkinsonism
#5
Lionel Van Maldergem, Arnaud Besse, Boel De Paepe, Emma L Blakely, Vivek Appadurai, Margaret M Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, François-Guillaume Debray, Jean-Jacques Martin, Marion Gaussen, Patrice Laloux, Giovanni Stevanin, Rudy Van Coster, Robert W Taylor, William C Copeland, Eric Mormont, Penelope E Bonnen
OBJECTIVE: Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult-onset cerebellar ataxia, axonal peripheral ataxic neuropathy, and tremor, in variable combination with parkinsonism, seizures, cognitive decline, and ophthalmoplegia. We sought to identify the underlying molecular etiology and characterize the mitochondrial pathophysiology of this neurological syndrome...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28075532/clinical-and-biochemical-characterization-of-the-prothrombin-belgrade-mutation-in-a-large-serbian-pedigree-new-insights-into-antithrombin-resistance-mechanism
#6
Predrag Miljic, Maja Gvozdenov, Yuki Takagi, Akira Takagi, Iva Pruner, Marija Dragojevic, Branko Tomic, Jelena Bodrozic, Tetsuhito Kojima, Dragica Radojkovic, Valentina Djordjevic
BACKGROUND: The recently reported c.1787G>A mutation in the prothrombin gene leads to Arg596Gln replacement in the protein molecule (prothrombin Belgrade). This substitution impairs binding of antithrombin to thrombin and results in inherited thrombophilia, known as antithrombin resistance. OBJECTIVES: We aimed to elucidate the clinical and biochemical characteristics of thrombophilia associated with antithrombin resistance in a large Serbian family with the prothrombin Belgrade mutation...
January 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28073995/a-pericentric-inversion-of-chromosome-x-disrupting-f8-and-resulting-in-haemophilia-a
#7
Yu Xin, Jingyi Zhou, Qiulan Ding, Changming Chen, Xi Wu, Xuefeng Wang, Hongli Wang, Xiaofeng Jiang
AIMS: The frequency of X chromosome pericentric inversion is much less than that of autosome chromosome. We hereby characterise a pericentric inversion of X chromosome associated with severe factor VIII (FVIII) deficiency in a sporadic haemophilia A (HA) pedigree. METHODS: PCR primer walking and genome walking strategies were adopted to identify the exact breakpoints of the inversion. Copy number variations (CNVs) of the F8 and the whole chromosomes were detected by AccuCopy and Affymetrix CytoScan High Definition (HD) assays, respectively...
January 10, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28070485/vagus-nerve-stimulation-for-genetic-epilepsy-with-febrile-seizures-plus-gefs-accompanying-seizures-with-impaired-consciousness
#8
Ryosuke Hanaya, Fajar H Niantiarno, Yumi Kashida, Hiroshi Hosoyama, Shinsuke Maruyama, Toshiaki Otsubo, Kazumi Tanaka, Atsushi Ishii, Shinichi Hirose, Kazunori Arita
Genetic epilepsy with febrile seizures plus (GEFS(+)) is characterized by childhood-onset epilepsy syndrome. It involves febrile seizures and a variety of afebrile epileptic seizure types within the same pedigree with autosomal-dominant inheritance. Approximately 10% of individuals with GEFS(+) harbor SCN1A, a gene mutation in one of the voltage-gated sodium channel subunits. Considerably less common are focal epilepsies including complex partial seizures. We report vagus nerve stimulation (VNS) in a 6-year-old girl with GEFS(+) who exhibited refractory generalized tonic-clonic seizures and complex partial seizures...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28065470/the-rare-variant-generalized-disequilibrium-test-for-association-analysis-of-nuclear-and-extended-pedigrees-with-application-to-alzheimer-disease-wgs-data
#9
Zongxiao He, Di Zhang, Alan E Renton, Biao Li, Linhai Zhao, Gao T Wang, Alison M Goate, Richard Mayeux, Suzanne M Leal
Whole-genome and exome sequence data can be cost-effectively generated for the detection of rare-variant (RV) associations in families. Causal variants that aggregate in families usually have larger effect sizes than those found in sporadic cases, so family-based designs can be a more powerful approach than population-based designs. Moreover, some family-based designs are robust to confounding due to population admixture or substructure. We developed a RV extension of the generalized disequilibrium test (GDT) to analyze sequence data obtained from nuclear and extended families...
January 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28064189/persistency-of-prediction-accuracy-and-genetic-gain-in-synthetic-populations-under-recurrent-genomic-selection
#10
Dominik Müller, Pascal Schopp, Albrecht E Melchinger
Recurrent selection (RS) has been used in plant breeding to successively improve synthetic and other multiparental populations. Synthetics are generated from a limited number of parents (Np), but little is known about how Np affects genomic selection (GS) in RS, especially the persistency of prediction accuracy and genetic gain. Synthetics were simulated by intermating Np= 2 to 32 parent lines from an ancestral population with short- or long-range linkage disequilibrium (LDA) and subjected to multiple cycles of GS...
January 6, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28063232/quantitative-genetic-analysis-of-the-body-composition-and-blood-pressure-association-in-two-ethnically-diverse-populations
#11
Sudipta Ghosh, Tasbulat Dosaev, Jai Prakash, Gregory Livshits
OBJECTIVES: The major aim of this study was to conduct comparative quantitative-genetic analysis of the body composition (BCP) and somatotype (STP) variation, as well as their correlations with blood pressure (BP) in two ethnically, culturally and geographically different populations: Santhal, indigenous ethnic group from India and Chuvash, indigenous population from Russia. MATERIALS AND METHODS: Correspondently two pedigree-based samples were collected from 1,262 Santhal and1,558 Chuvash individuals, respectively...
January 7, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28062663/a-population-based-analysis-of-germline-bap1-mutations-in-melanoma
#12
Sally J O'Shea, Carla Daniela Robles-Espinoza, Lauren McLellan, Jeanine Harrigan, Xavier Jacq, James Hewinson, Vivek Iyer, Will Merchant, Faye Elliott, Mark Harland, D Timothy Bishop, Julia Newton-Bishop, David J Adams
Germline mutation of the BRCA1 associated protein-1 (BAP1) gene has been linked to uveal melanoma, mesothelioma, meningioma, renal cell carcinoma and basal cell carcinoma. Germline variants have also been found in familial cutaneous melanoma pedigrees, but their contribution to sporadic melanoma has not been fully assessed. We sequenced BAP1 in 1,977 melanoma cases and 754 controls and used deubiquitinase assays, a pedigree analysis, and a histopathological review to assess the consequences of the mutations found...
January 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28062275/put-the-family-back-in-family-health-history-a-multiple-informant-approach
#13
Jielu Lin, Christopher S Marcum, Melanie F Myers, Laura M Koehly
INTRODUCTION: An accurate family health history is essential for individual risk assessment. This study uses a multiple-informant approach to examine whether family members have consistent perceptions of shared familial risk for four common chronic conditions (heart disease, Type 2 diabetes, high cholesterol, and hypertension) and whether accounting for inconsistency in family health history reports leads to more accurate risk assessment. METHODS: In 2012-2013, individual and family health histories were collected from 127 adult informants of 45 families in the Greater Cincinnati Area...
January 3, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28061825/new-cdh3-mutation-in-the-first-spanish-case-of-hypotrichosis-with-juvenile-macular-dystrophy-a-case-report
#14
Fiona Blanco-Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sanchez-Navarro, Rosa Riveiro-Alvarez, Miguel Angel Lopez-Martinez, Marta Corton, Carmen Ayuso
BACKGROUND: CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile Macular Dystrophy. CASE PRESENTATION: A Spanish male born in 1998 from non-consanguineous healthy parents with a suspected diagnosis of Keratosis Follicularis Spinulosa Decalvans and Retinitis Pigmentosa Inversa referred to our Genetics Department (IIS-Fundación Jiménez Díaz)...
January 7, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28060055/genetic-counselling-and-high-penetrance-susceptibility-gene-analysis-reveal-the-novel-cdkn2a-p-d84v-c-251a-t-mutation-in-melanoma-prone-families-from-italy
#15
Riccardo G Borroni, Ausilia M Manganoni, Sara Grassi, Maurizia Grasso, Marta Diegoli, Carmela Giorgianni, Valentina Favalli, Laura Pavoni, Maddalena Cespa, Eloisa Arbustini
Genetic susceptibility to primary cutaneous melanoma (PCM) may account for up to 12% of PCMs, presenting as the familial atypical mole/multiple melanoma syndrome (FAMMM), an autosomal dominant condition with incomplete penetrance and variable expressivity, characterized by PCM in at least two relatives and/or more than one PCMs in the same patient. To identify individuals at high genetic risk of PCM, from 1 January 2012 to 31 December 2015, we offered genetic counselling and molecular analysis of the two high-penetrance FAMMM susceptibility genes, cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4), to 92 consecutive, unrelated patients with FAMMM...
January 4, 2017: Melanoma Research
https://www.readbyqxmd.com/read/28059798/sporadic-cases-with-novel-mutations-and-pedigree-in-hereditary-leukoencephalopathy-with-axonal-spheroids
#16
Liyong Wu, Jia Liu, Longze Sha, Xianling Wang, Jieying Li, Jing Dong, Jianping Jia
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant hereditary disease, featured by cerebral white matter degeneration with demyelination and axonal spheroids. We collected three gene-confirmed HDLS cases in our neurodegenerative clinic. Two HDLS cases were sporadic with novel mutations, while another case had a family history with previously described mutations. All three cases suffered memory problems with white matter lesions and pyramid signs. No obvious clinical differences were observed between sporadic and familial HDLS cases...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28056232/-analysis-of-cardiac-troponin-c-gene-tnnc1-c-g175c-mutation-in-a-chinese-pedigree-with-familial-hypertrophic-cardiomyopathy-and-the-correlation-between-genotype-and-phenotype
#17
X B Xing, F S Liu, F Wang, L Song, W N Zhao, J Liu, K C Zhang, Y Z Zhu, X F Shang, R Li, Y Liang
Objective: To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy (HCM )focusing on the cardiac troponin C gene TNNC1 c. G175C mutation. Methods: All family members of a Chinese pedigree with hypertrophic cardiomyopathy admitted in Third People's Hospital of Qingdao in February 2005 and 200 healthy volunteers were included in this study. The coding exons of 30 hypertrophic cardiomyopathy associated genes were identified by whole exons amplification and high-throughput sequencing in the proband, and the identified mutation were further detected through bi-directional Sanger sequencing in all family members and 200 healthy volunteers...
December 24, 2016: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28051029/a-pou3f4-mutation-causes-nonsyndromic-hearing-loss-in-a-chinese-x-linked-recessive-family
#18
Wan Du, Ming-Kun Han, Da-Yong Wang, Bing Han, Liang Zong, Lan Lan, Ju Yang, Qi Shen, Lin-Yi Xie, Lan Yu, Jing Guan, Qiu-Ju Wang
BACKGROUND: The molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family. METHODS: A series of clinical evaluations including medical history, otologic examinations, family history, audiologic testing, and a high-resolution computed tomography scan were performed for each patient. Bidirectional sequencing was carried out for all polymerase chain reaction products of the samples...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28049866/genetic-diversity-of-the-yonaguni-horse-based-on-polymorphisms-in-microsatellites-and-mitochondrial-dna
#19
Natsuko Senju, Teruaki Tozaki, Hironaga Kakoi, Akihisa Shinjo, Ryota Matsuyama, Julio Almunia, Masaki Takasu
Thirty-two microsatellites and a mitochondrial DNA haplotypes of endangered Yonaguni horses were analyzed to establish a pedigree registration system and to understand their genetic diversity for planning effective conservation. Blood samples were collected from 78 of the 130 horses in existence, and DNA was extracted and genotyped. There were two major findings. One is that it is possible to use microsatellites for Yonaguni horse pedigree registration in the future because the power of exclusion of parentage testing is reliable at 0...
December 31, 2016: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28049710/accuracy-of-genomic-prediction-in-synthetic-populations-depending-on-the-number-of-parents-relatedness-and-ancestral-linkage-disequilibrium
#20
Pascal Schopp, Dominik Müller, Frank Technow, Albrecht E Melchinger
Synthetics play an important role in quantitative genetic research and plant breeding, but few studies have investigated the application of genomic prediction (GP) to these populations. Synthetics are generated by intermating a small number of parents ([Formula: see text] and thereby possess unique genetic properties, which make them especially suited for systematic investigations of factors contributing to the accuracy of GP. We generated synthetics in silico from [Formula: see text]2 to 32 maize (Zea mays L...
January 2017: Genetics
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