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https://www.readbyqxmd.com/read/28818065/case-reports-of-two-pedigrees-with-recessive-arrhythmogenic-right-ventricular-cardiomyopathy-associated-with-homozygous-thr335ala-variant-in-dsg2
#1
Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W Koskenvuo
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular genetic etiology of the disease still remains largely inconclusive, and this along with large variabilities in clinical manifestations complicate clinical diagnostics. CASE PRESENTATION: We report two families (n = 20) in which a desmoglein-2 (DSG2) missense variant c...
August 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28817930/identification-of-a-new-zinc-binding-chemotype-by-fragment-screening
#2
Panagiotis K Chrysanthopoulos, Prashant Mujumdar, Lucy A Woods, Olan Dolezal, Bin Ren, Thomas S Peat, Sally-Ann Poulsen
The discovery of a new zinc binding chemotype from screening a non-biased fragment library is reported. Using the orthogonal fragment screening methods of native state mass spectrometry and surface plasmon resonance a 3-unsubstituted-2,4-oxazolidinedione fragment was found to have low micromolar binding affinity to the zinc metalloenzyme carbonic anhydrase II (CA II). This affinity approached that of fragment sized primary benzene sulfonamides, the classical zinc binding group found in most CA II inhibitors...
August 17, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28816296/-complete-androgen-insensitivity-syndrome-associated-with-vesical-fistula-a-case-report-and-literature-review
#3
K H Hua, L Yang, X W Zhang, W J Bai, Q Li, T Xu
Androgen insensitivity syndrome (AIS) is a very uncommon genetic disorder that results from the resistance of androgen receptor (AR) to androgen, which influences the formation of the male genitalia and in turn presents with female phenotype. Surgical resection of undesceaded testicle and different kinds of genitoplasty are crucial methods to correct the deformity of reproductive system, as well as hormone replacement therapy, which is an essential therapy for postoperational rehabilitation in AIS patients...
August 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28814155/frequency-of-a-fas-ligand-gene-variant-associated-with-inherited-feline-autoimmune-lymphoproliferative-syndrome-in-british-shorthair-cats-in-new-zealand
#4
D Aberdein, J S Munday, K E Dittmer, R W Heathcott, L A Lyons
AIMS: To determine the frequency of the FAS-ligand gene (FASLG) variant associated with feline autoimmune lymphoproliferative syndrome (FALPS) and the proportion of carriers of the variant in three British shorthair (BSH) breeding catteries in New Zealand. METHODS: Buccal swabs were collected from all cats in two BSH breeding catteries from the South Island and one from the North Island of New Zealand. DNA was extracted and was tested for the presence of the FASLG variant using PCR...
August 16, 2017: New Zealand Veterinary Journal
https://www.readbyqxmd.com/read/28808920/prospective-turkish-cohort-study-to-investigate-the-frequency-of-niemann-pick-disease-type-c-mutations-in-consanguineous-families-with-at-least-one-homozygous-family-member
#5
Meral Topçu, Dilek Aktas, Merih Öztoprak, Neslihan Önenli Mungan, Aysel Yuce, Mehmet Alikasifoglu
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Diagnosis of NP-C can be challenging and is frequently delayed. Identifying mutations in individuals with NP-C and their relatives enables genetic counseling and prenatal diagnosis and may support earlier diagnosis. Here we report findings from a prospective cohort study in Turkey, using targeted genetic screening of the families of NP-C probands with homozygous NPC1 or NPC2 mutations...
August 14, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28806925/genomic-data-illuminates-demography-genetic-structure-and-selection-of-a-popular-dog-breed
#6
Pamela Wiener, Enrique Sánchez-Molano, Dylan N Clements, John A Woolliams, Marie J Haskell, Sarah C Blott
BACKGROUND: Genomic methods have proved to be important tools in the analysis of genetic diversity across the range of species and can be used to reveal processes underlying both short- and long-term evolutionary change. This study applied genomic methods to investigate population structure and inbreeding in a common UK dog breed, the Labrador Retriever. RESULTS: We found substantial within-breed genetic differentiation, which was associated with the role of the dog (i...
August 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28805917/technical-note-impact-of-pedigree-depth-on-convergence-of-single-step-genomic-blup-in-a-purebred-swine-population
#7
I Pocrnic, D A L Lourenco, H L Bradford, C Y Chen, I Misztal
In genomic evaluations, it is desirable to have low computing cost while retaining high accuracy of evaluation for young animals. When the population is large but only few animals have phenotypes, especially for low heritability traits, the convergence rate of BLUP or single-step genomic BLUP (ssGBLUP) can be very slow. This study investigates the effect of pedigree truncation on convergence rate and solutions of ssGBLUP for data exhibiting slow convergence. The data consisted of 216,000, 221,000, 732,000, and 579,000 phenotypes on 4 traits...
August 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28805766/-results-of-a-clinical-and-genealogical-analysis-of-pedigrees-of-children-with-cerebral-palsy-in-the-population-of-rostov-region
#8
V A Tupikov, T S Kolmakova, V B Shamik, M V Tupikov, N M Churilov
AIM: To perform clinical and genealogical pedigree analysis and determine the proportion of hereditary factors in the etiopathogenesis of cerebral palsy (CP) in children in the Rostov Region. MATERIAL AND METHODS: Pedigrees and the prevalence of CP, congenital malformations and other related diseases among relatives of I, II and III degrees of kinship of 229 probands with CP were studied. RESULTS AND CONCLUSION: The family concentration of the disease was detected in 15 (6...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28803586/genetic-evaluation-and-selection-response-for-growth-in-meat-type-quail-through-random-regression-models-using-b-spline-functions-and-legendre-polynomials
#9
L F M Mota, P G M A Martins, T O Littiere, L R A Abreu, M A Silva, C M Bonafé
The objective was to estimate (co)variance functions using random regression models (RRM) with Legendre polynomials, B-spline function and multi-trait models aimed at evaluating genetic parameters of growth traits in meat-type quail. A database containing the complete pedigree information of 7000 meat-type quail was utilized. The models included the fixed effects of contemporary group and generation. Direct additive genetic and permanent environmental effects, considered as random, were modeled using B-spline functions considering quadratic and cubic polynomials for each individual segment, and Legendre polynomials for age...
August 14, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28802351/exome-sequencing-identifies-a-novel-missense-mutation-of-wfs1-as-the-cause-of-non-syndromic-low-frequency-hearing-loss-in-a-chinese-family
#10
Zhijie Niu, Yong Feng, Zhengmao Hu, Jiada Li, Jie Sun, Hongsheng Chen, Chufeng He, Xueping Wang, Lu Jiang, Yalan Liu, Xinzhang Cai, Lili Wang, Yuxiang Cai, Xuezhong Liu, Lingyun Mei
OBJECTIVE: Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a five-generation Chinese family. METHODS: The phenotype of the Chinese family was characterized using audiologic testing and pedigree analysis. The combined approach of array screening and whole-exome sequencing was used to identify the disease-causing gene in this family...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28796570/pedigree-analysis-of-familial-primary-concomitant-horizontal-strabismus-in-northern-india
#11
Zia Chaudhuri, Jibin John, Satinder Aneja, B K Thelma
PURPOSE: Familial clustering of common forms of primary strabismus like esotropia (ET) and exotropia (XT) is observed in a proportion of the strabismus cohort. The genetic components of this remain unidentified. Linkage studies have demonstrated susceptibility locus for primary strabismus at the STBMS1 locus on 7p22.1 as well as other loci on 4q28.3 and 7q31.2. Recently next generation sequencing (NGS) technology has emerged as a powerful tool in discovery genomics and a large number of novel disease-causing variants are being reported...
August 10, 2017: Strabismus
https://www.readbyqxmd.com/read/28796413/complex-genetic-control-of-lung-tumorigenesis-in-resistant-mice-strains
#12
Alice Dassano, Giulia Pintarelli, Chiara E Cotroneo, Angela Pettinicchio, Elena Forcati, Loris De Cecco, Andrea Borrego, Francesca Colombo, Tommaso A Dragani, Giacomo Manenti
The SM/J mouse strain is resistant to chemically induced lung tumorigenesis despite having a haplotype, in the pulmonary adenoma susceptibility locus (Pas1) locus, that confers tumor susceptibility in other strains. To clarify this inconsistent genotype-phenotype correlation, we crossed SM/J mice with another resistant strain and did genome-wide linkage analysis in the (C57BL/6J x SM/J)F2 progeny exposed to urethane to induce lung tumors. Overall, >80% of F2 mice of both sexes developed from 1 to 20 lung tumors...
August 10, 2017: Cancer Science
https://www.readbyqxmd.com/read/28796317/mutation-status-of-rad51c-palb2-and-brip1-in-100-japanese-familial-breast-cancer-cases-without-brca1-and-brca2-mutations
#13
Katsutoshi Sato, Mio Koyasu, Sachio Nomura, Yuri Sato, Mizuho Kita, Yuumi Ashihara, Yasue Adachi, Shinji Ohno, Takuji Iwase, Dai Kitagawa, Eri Nakashima, Reiko Yoshida, Yoshio Miki, Masami Arai
In addition to BRCA1 and BRCA2, RAD51C, PALB2, and BRIP1 are known as breast cancer susceptibility genes. However, the mutation status of these genes in Japanese familial breast cancer cases has not been evaluated yet. To this end, we analyzed the exon sequence and genomic rearrangement of RAD51C, PALB2, and BRIP1 in 100 Japanese patients diagnosed with familial breast and ovarian cancer and without BRCA1 and BRCA2 mutations. We detected a large deletion from exon 6 to 9 in RAD51C, 4 novel BRIP1 missense variants containing 3 novel non-synonymous variants, c...
August 10, 2017: Cancer Science
https://www.readbyqxmd.com/read/28794107/variation-in-recombination-rate-and-its-genetic-determinism-in-sheep-populations
#14
Morgane Petit, Jean-Michel Astruc, Julien Sarry, Laurence Drouilhet, Stéphane Fabre, Carole Moreno, Bertrand Servin
Recombination is a complex biological process that results from a cascade of multiple events during meiosis. Understanding the genetic determinism of recombination can help to understand if and how these events are interacting. To tackle this question, we studied the patterns of recombination in sheep, using multiple approaches and datasets. We constructed male recombination maps in a dairy breed from the south of France (the Lacaune breed) at a fine scale by combining meiotic recombination rates from a large pedigree genotyped with a 50K SNP array and historical recombination rates from a sample of unrelated individuals genotyped with a 600K SNP array...
August 9, 2017: Genetics
https://www.readbyqxmd.com/read/28792887/the-genetic-basis-for-the-selection-of-dairy-goats-with-enhanced-resistance-to-gastrointestinal-nematodes
#15
Felix Heckendorn, Anna Bieber, Steffen Werne, Anastasios Saratsis, Veronika Maurer, Chris Stricker
Gastrointestinal nematodes (GIN) severely affect small ruminant production worldwide. Increasing problems of anthelmintic resistance have given strong impetus to the search for alternative strategies to control GIN. Selection of animals with an enhanced resistance to GIN has been shown to be successful in sheep. In goats, the corresponding information is comparatively poor. Therefore, the present study was designed to provide reliable data on heritabilities of and genetic correlations between phenotypic traits linked to GIN and milk yield in two major dairy goat breeds (Alpine and Saanen)...
2017: Parasite: Journal de la Société Française de Parasitologie
https://www.readbyqxmd.com/read/28792084/genetic-control-of-complex-traits-with-a-focus-on-reproduction-in-pigs
#16
REVIEW
Louisa J Zak, Ann Helen Gaustad, Alfonso Bolarin, Marleen Broekhuijse, Grant A Walling, Egbert F Knol
Reproductive traits are complex, and desirable reproductive phenotypes, such as litter size or semen quality, are true polygenetic traits determined by multiple pathways. Each individual gene contributes to the overall variation in these traits, so genetic improvements can be achieved using conventional selection methodology. In the past, a pedigree-based-relationship matrix was used; this is now replaced by a combination of pedigree-based- and genomic-relationship matrices. The heritability of reproductive traits is low to moderate, so large-scale data recording is required to identify specific, selectable attributes...
August 9, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/28780519/analysis-of-genetic-and-clinical-characteristics-of-a-chinese-kallmann-syndrome-cohort-with-anos1-mutations
#17
Min Nie, Hongli Xu, Rongrong Chen, Jiangfeng Mao, Xi Wang, Shuyu Xiong, Junjie Zheng, Bingqing Yu, Mingxuan Cui, Wanlu Ma, Qibing Huang, Hongbing Zhang, Xueyan Wu
OBJECTIVE: To analyze ANOS1 gene mutations in a large Chinese Kallmann syndrome (KS) cohort and to characterize the clinical presentation of the disease in patients with ANOS1 mutations. PATIENTS AND METHODS: Chinese patients with KS, including 187 sporadic and 23 pedigree cases were recruited. Patients' ANOS1 gene sequences were analyzed by direct sequencing of PCR-amplified products. In silico analysis was used to assess functional relevance of newly identified missense mutations...
August 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28780113/short-communication-the-role-of-genotypes-from-animals-without-phenotypes-in-single-step-genomic-evaluations
#18
T Shabalina, E C G Pimentel, C Edel, L Plieschke, R Emmerling, K-U Götz
In a 2-step genomic system, genotypes of animals without phenotypes do not influence genomic prediction of other animals, but that might not be the case in single-step systems. We investigated the effects of including genotypes from culled bulls on the reliability of genomic predictions from single-step evaluations. Four scenarios with a constant amount of phenotypic information and increasing numbers of genotypes from culled bulls were simulated and compared with respect to prediction reliability. With increasing numbers of genotyped culled bulls, there was a corresponding increase in prediction reliability...
August 2, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28780110/improving-genetic-evaluation-using-a-multitrait-single-step-genomic-model-for-ability-to-resume-cycling-after-calving-measured-by-activity-tags-in-holstein-cows
#19
Ahmed Ismael, Peter Løvendahl, Anders Fogh, Mogens Sandø Lund, Guosheng Su
The objective of this study was to evaluate the improvement of the accuracy of estimated breeding values for ability to recycle after calving by using information of genomic markers and phenotypic information of correlated traits. The traits in this study were the interval from calving to first insemination (CFI), based on artificial insemination data, and the interval from calving to first high activity (CFHA), recorded from activity tags, which could better measure ability to recycle after caving. The phenotypic data set included 1,472,313 records from 820,218 cows for CFI, and 36,504 records from 25,733 cows for CFHA...
August 2, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28777870/-tuberous-scelerosis-a-pedigree-with-five-cases
#20
Guoqiang Zhang, Mingyuan Ren, Si Li, Yi Cheng, Lu Zhao, Yuanzhu Lin, Shunqiang Gao
No abstract text is available yet for this article.
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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