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https://www.readbyqxmd.com/read/29783935/identification-of-a-novel-nonsense-mutation-in-the-unc13d-gene-from-a-patient-with-hemophagocytic-lymphohistiocytosis-a-case-report
#1
Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao, Changying Chen
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal recessive disorder with causative genes including HPLH1, PRF1, UNC13D, STX11 and STXBP2. CASE PRESENTATION: Here, we reported an 8-month-old female patient with compound heterozygosity in the UNC13D gene. The patient, who presented typical symptoms, was diagnosed with HLH based on HLH-2004 guidelines...
May 21, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29778423/genetic-variants-of-treml2-are-associated-with-hla-b27-positive-ankylosing-spondylitis
#2
Yuan Feng, Yaqiang Hong, Xin Zhang, Chunwei Cao, Xichao Yang, Shujuan Lai, Chunmei Fan, Feng Cheng, Mei Yan, Chaohua Li, Wan Huang, Wei Chen, Ping Zhu, Changqing Zeng
Although ankylosing spondylitis (AS) is a common, highly heritable arthropathy, the precise genetic mechanism underlying the disease remains elusive. Here, we investigate the disease-causing mutations in a large AS family with distinguished complexity, consisting of 23 patients covering four generations and exhibiting a mixed HLA-B27 (+) and (-) status. Linkage analysis with 32 members using three methods and whole-exome sequencing analysis with three HLA-B27 (+) patients, one HLA-B27 (-) patient, and one healthy individual did not identify a mutation common to all of the patients, strongly suggesting the existence of genetic heterogeneity in this large pedigree...
May 17, 2018: Gene
https://www.readbyqxmd.com/read/29774869/genetic-epidemiology-and-risk-factors-for-brain-tumors
#3
Xuejun Li, Hang Cao, Yanhong Liu
This report summarized current knowledge and findings relevant to environmental and genetic risk factors in brain tumors, with a particular focus on glioma. To date, the established risk factors for brain tumors are family history and ionizing radiation exposure; whereas there is an inverse association between tumors and other factors such as history of allergies, atopic conditions, chickenpox, and varicella zoster virus infection. To identify inherited genetic variants impacting susceptibility of brain tumors, large scale familial linkage-scan pedigree analysis, population-based candidate genes, and genome-wide association study were performed...
April 28, 2018: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/29774306/leber-s-hereditary-optic-neuropathy-lhon-in-an-apulian-cohort-of-subjects
#4
Angelica Bianco, Luigi Bisceglia, Paolo Trerotoli, Luciana Russo, Leonardo D'Agruma, Silvana Guerriero, Vittoria Petruzzella
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder that causes severe loss of sight in young adults, and is typically associated to mitochondrial DNA (mtDNA) mutations. Heteroplasmy of primary LHON mutations, presence of 'ancillary' mtDNA mutations, and mtDNA copy number are probably correlated with the penetrance and the severity of the disease. In this study, we performed a mutational screening in an Apulian cohort of LHON patients and we found that 41 out of 54 subjects harbored the m...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29770609/whole-exome-sequencing-for-variant-discovery-in-blepharospasm
#5
Jun Tian, Satya R Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska-Bar, Zbigniew K Wszolek, Kathleen D Kennelly, Ryan J Uitti, Jay A van Gerpen, Peter Hedera, Elizabeth J Trimble, Mark S LeDoux
BACKGROUND: Blepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset. Although several genetic etiologies for dystonia have been identified through whole-exome sequencing (WES), none of these are characteristically associated with BSP as a singular or predominant manifestation...
May 16, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29764998/mapping-cortical-brain-asymmetry-in-17-141-healthy-individuals-worldwide-via-the-enigma-consortium
#6
Xiang-Zhen Kong, Samuel R Mathias, Tulio Guadalupe, David C Glahn, Barbara Franke, Fabrice Crivello, Nathalie Tzourio-Mazoyer, Simon E Fisher, Paul M Thompson, Clyde Francks
Hemispheric asymmetry is a cardinal feature of human brain organization. Altered brain asymmetry has also been linked to some cognitive and neuropsychiatric disorders. Here, the ENIGMA (Enhancing NeuroImaging Genetics through Meta-Analysis) Consortium presents the largest-ever analysis of cerebral cortical asymmetry and its variability across individuals. Cortical thickness and surface area were assessed in MRI scans of 17,141 healthy individuals from 99 datasets worldwide. Results revealed widespread asymmetries at both hemispheric and regional levels, with a generally thicker cortex but smaller surface area in the left hemisphere relative to the right...
May 15, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29764960/a-genomic-region-containing-rec8-and-rnf212b-is-associated-with-individual-recombination-rate-variation-in-a-wild-population-of-red-deer-cervus-elaphus
#7
Susan E Johnston, Jisca Huisman, Josephine M Pemberton
Recombination is a fundamental feature of sexual reproduction, ensuring proper disjunction, preventing mutation accumulation and generating new allelic combinations upon which selection can act. However it is also mutagenic, and breaks up favourable allelic combinations previously built up by selection. Identifying the genetic drivers of recombination rate variation is a key step in understanding the causes and consequences of this variation, how loci associated with recombination are evolving and how they affect the potential of a population to respond to selection...
May 15, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29762926/genetic-complexity-of-mitral-valve-prolapse-revealed-by-clinical-and-genetic-evaluation-of-a-large-family
#8
Gloria T Haskell, Brian C Jensen, Cecile Skrzynia, Thelsa Pulikkotil, Christian R Tilley, Yurong Lu, Daniel S Marchuk, Leigh Ann Samsa, Kirk C Wilhelmsen, Ethan Lange, Cam Patterson, James P Evans, Jonathan S Berg
BACKGROUND: A genetic component to familial mitral valve prolapse (MVP) has been proposed for decades. Despite this, very few genes have been linked to MVP. Herein is described a four-generation pedigree with numerous individuals affected with severe MVP, some at strikingly young ages. METHODS: A detailed clinical evaluation performed on all affected family members demonstrated a spectrum of MVP morphologies and associated phenotypes. RESULTS: Linkage analysis failed to identify strong candidate loci, but revealed significant regions, which were investigated further using whole-exome sequencing of one of the severely affected family members...
September 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29760189/incidence-and-prevalence-of-sporadic-and-hereditary-mtc-in-denmark-1960-2014-a-nationwide-study
#9
Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Kirstine Stochholm, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Sten Schytte, Stefano Christian Londero, Henrik Baymler Pedersen, Christoffer Holst Hahn, Bjarki Ditlev Djurhuus, Jens Bentzen, Sören Möller, Mette Gaustadnes, Maria Rossing, Finn Cilius Nielsen, Kim Brixen, Anja Lisbeth Frederiksen, Christian Godballe
Recent studies have shown a significant increase in the temporal trend of medullary thyroid carcinoma (MTC) incidence. However, it remains unknown to which extent sporadic medullary thyroid carcinoma (SMTC) and hereditary MTC (HMTC) affects the MTC incidence over time. We conducted a nationwide retrospective study using previously described RET and MTC cohorts combined with review of medical records, pedigree comparison and relevant nationwide registries. The study included 474 MTC patients diagnosed in Denmark between 1960 and 2014...
May 14, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29758060/genetic-variation-in-humoral-response-to-an-escherichia-coli-o157-h7-vaccine-in-beef-cattle
#10
Kara B Marley, Larry A Kuehn, John W Keele, Benjamin W Wileman, Michael G Gonda
Individuals often respond differently to the same vaccine; some of this variation may be caused by genetic differences among animals. Our objective was to estimate heritability and identify genomic regions associated with humoral response to an Escherichia coli O157:H7 vaccine in beef cattle. Crossbred beef cattle (n = 651) were vaccinated with a commercially available E. coli O157:H7 vaccine. Serum was collected at time of initial vaccination (d 0), booster (d 21), and d 56 after initial vaccination. Total antibodies specific to siderophore receptor and porin proteins in the vaccine were quantified by enzyme-linked immunosorbent assay...
2018: PloS One
https://www.readbyqxmd.com/read/29757430/genome-wide-analysis-of-snps-is-consistent-with-no-domestic-dog-ancestry-in-the-endangered-mexican-wolf-canis-lupus-baileyi
#11
Robert R Fitak, Sarah E Rinkevich, Melanie Culver
The Mexican gray wolf (Canis lupus baileyi) was historically distributed throughout the southwestern United States and northern Mexico. Extensive predator removal campaigns during the early 20th century, however, resulted in its eventual extirpation by the mid 1980s. At this time, the Mexican wolf existed only in 3 separate captive lineages (McBride, Ghost Ranch, and Aragón) descended from 3, 2, and 2 founders, respectively. These lineages were merged in 1995 to increase the available genetic variation, and Mexican wolves were reintroduced into Arizona and New Mexico in 1998...
May 11, 2018: Journal of Heredity
https://www.readbyqxmd.com/read/29756269/genetic-and-clinical-features-of-chinese-patients-with-mitochondrial-ataxia-identified-by-targeted-next-generation-sequencing
#12
Hai-Lin Dong, Yin Ma, Quan-Fu Li, Yi-Chu Du, Lu Yang, Sheng Chen, Zhi-Ying Wu
AIM: To characterize the mutations in mitochondrial DNA (mtDNA) and mitochondrion-related nuclear genes (nDNA), and clinical features in Chinese patients with mitochondrial ataxia. METHODS: Targeted next-generation sequencing (NGS) technology was performed to screen the whole mtDNA sequence and nDNA genes in a cohort of 33 unrelated ataxia patients. RESULTS: A total of 5 pedigrees were finally genetically diagnosed as mitochondrial ataxia, with 3 pathogenic mutations (m...
May 13, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29750477/apple-fruit-acidity-is-genetically-diversified-by-natural-variations-in-three-hierarchical-epistatic-genes-mdsaur37-mdpp2ch-and-mdalmtii
#13
Dongjie Jia, Fei Shen, Yi Wang, Ting Wu, Xuefeng Xu, Xinzhong Zhang, Zhenhai Han
Many efforts have been made to map quantitative trait loci (QTLs) to facilitate practical marker-assisted selection (MAS) in plants. In the present study, we identified four genome-wide major QTLs responsible for apple fruit acidity by MapQTL and BSA-seq analyses using two independent pedigree-based populations. Candidate genes were screened in major QTL regions, and three functional gene markers, including a non-synonymous A/G single nucleotide polymorphism (SNP) in the coding region of MdPP2CH, a 36-bp insertion in the promoter of MdSAUR37, and a previously reported SNP in MdALMTII, were validated to influence the malate content of apple fruits...
May 11, 2018: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29750433/absence-of-a-primary-role-for-ttn-missense-variants-in-arrhythmogenic-cardiomyopathy-from-a-clinical-and-pathological-perspective
#14
Kai Chen, Jiangping Song, Zhen Wang, Man Rao, Liang Chen, Shengshou Hu
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inheritable heart disease characterized by fibro-fatty replacement of the myocardium. TTN missense variants were previously reported as a pathogenic factor for ACM. HYPOTHESIS: TTN missense variants are commonly identified in ACM, but have limited effect on the phenotype of ACM. METHODS: We sequenced 15 ACM-related genes in 35 patients who had a heart transplantation and quantified myocardium, and fibrous and adipose tissue in blocks of the explanted heart...
May 11, 2018: Clinical Cardiology
https://www.readbyqxmd.com/read/29750297/col2a1-mutation-c-3508g-a-leads-to-avascular-necrosis-of-the-femoral-head-in-a-chinese-family-a-case-report
#15
Fang Liu, Zhizheng Xiong, Qi Liu, Jinxi Hu, Wenhua Li, Na Zhang
Avascular necrosis of the femoral head (ANFH) is a consequence of ischemia. Although the majority of cases of ANFH are sporadic, certain familial cases of ANFH have been reported to be associated with collagen type II α1 chain (COL2A1) mutations, which lead to COL2A1 gene dysfunction. The structure of secreted type II collagen contains a core area with a triple helical glycine (Gly)‑X‑Y domain, and the replacement of Gly in this region as a result of COL2A1 mutations may damage the structure of type II collagen...
May 7, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29750111/demography-and-disorders-of-the-french-bulldog-population-under-primary-veterinary-care-in-the-uk-in-2013
#16
Dan G O'Neill, Lauren Baral, David B Church, Dave C Brodbelt, Rowena M A Packer
Background: Despite its Gallic name, the French Bulldog is a breed of both British and French origin that was first recognised by The Kennel Club in 1906. The French Bulldog has demonstrated recent rapid rises in Kennel Club registrations and is now (2017) the second most commonly registered pedigree breed in the UK. However, the breed has been reported to be predisposed to several disorders including ocular, respiratory, neurological and dermatological problems. The VetCompass™ Programme collates de-identified clinical data from primary-care veterinary practices in the UK for epidemiological research...
2018: Canine Genetics and Epidemiology
https://www.readbyqxmd.com/read/29749453/identification-of-a-vhl-gene-mutation-in-a-chinese-family-with-von-hippel%C3%A2-lindau-syndrome
#17
Zhengwen He, Lu Xia, Zhiyong Deng, Aojie Lian, Zhengmao Hu, Bin Li
Von Hippel‑Lindau (VHL) syndrome is an autosomal dominant neoplastic disorder. The VHL tumor suppressor (VHL) gene has previously been identified to represent the causative gene of VHL. Previous studies have demonstrated that >506 different mutations in VHL are associated with VHL syndrome. The aim of the present study was to determine the VHL gene mutation present in a VHL syndrome pedigree and to investigate the pathogenesis of the mutant protein. Briefly, a family suffering from VHL syndrome in a Chinese Han population was recruited, and a missense mutation (c...
May 4, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29747824/congenital-disorders-of-ganglioside-biosynthesis
#18
T August Li, Ronald L Schnaar
Gangliosides are expressed on all vertebrate cells and tissues, but are particularly abundant in the mammalian brain, where they constitute major cell-surface determinants on all nerve cells. The same four ganglioside structures, GM1, GD1a, GD1b, and GT1b, constitute the great majority of brain gangliosides in all mammals. Biosynthesis of these major brain gangliosides starts with addition of glucose to the ceramide lipid carrier followed by stepwise addition of up to six additional monosaccharides. This primarily involves the sequential action of seven glycosyltransferases, many of which appear to act specifically on glycolipid (rather than glycoprotein) acceptors...
2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29743414/asn391thr-mutation-of-%C3%AE-myosin-heavy-chain-in-a-hypertrophic-cardiomyopathy-family
#19
Xiaotong Feng, Tingting He, Ji-Gang Wang, Peng Zhao
The present study was performed to identify the genetic abnormalities in a family with familial hypertrophic cardiomyopathy.Peripheral blood samples were collected from 22 members of a Chinese family with hypertrophic cardiomyopathy and 307 healthy controls. A total of 26 candidate pathogenic genes were analyzed in the proband using targeted capture sequencing. Identified mutations were analyzed using Sanger sequencing in all family members and healthy controls.A missense mutation (c.1172A>C, p. Asn391Thr) in exon 12 of MYH7 was identified in eight family members, among which six of them were hypertrophic cardiomyopathy carriers...
May 9, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29743175/genomic-model-with-correlation-between-additive-and-dominance-effects
#20
Tao Xiang, Ole Fredslund Christensen, Zulma Gladis Vitezica, Andres Legarra
Dominance genetic effects are rarely included in pedigree-based genetic evaluation. With the availability of single nucleotide polymorphism markers and the development of genomic evaluation, estimates of dominance genetic effects have become feasible using genomic best linear unbiased prediction (GBLUP). Usually, studies involving additive and dominance genetic effects ignore possible relationships between them. It has been often suggested that the magnitude of functional additive and dominance effects at the quantitative trait loci are related, but there is no existing GBLUP-like approach accounting for such correlation...
May 9, 2018: Genetics
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