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https://www.readbyqxmd.com/read/28654725/searching-online-mendelian-inheritance-in-man-omim-a-knowledgebase-of-human-genes-and-genetic-phenotypes
#1
Joanna S Amberger, Ada Hamosh
Online Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. This unit provides an overview of the types of information in OMIM and optimal strategies for searching and retrieving the information. OMIM.org has links to many related and complementary databases, providing easy access to more information on a topic. The relationship between genes and genetic disorders is highlighted in this unit...
June 27, 2017: Current Protocols in Bioinformatics
https://www.readbyqxmd.com/read/28654709/atopic-dermatitis-progression-evaluating-intervention-strategies
#2
Linda F Stein Gold, Lawrence F Eichenfield
Several risk factors have been identified that appear to be consistently and strongly associated with the development of atopic dermatitis (AD): a family history of atopy, an inherited genetic predisposition, and active and passive exposure to tobacco smoke. Recent studies also have demonstrated that a simple intervention from birth-the daily application of an emollient moisturizer-seems to protect susceptible infants from the development of AD.
March 2017: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28654681/abnormal-neurofilament-inclusions-and-segregations-in-dorsal-root-ganglia-of-a-charcot-marie-tooth-type-2e-mouse-model
#3
Jian Zhao, Kristy Brown, Ronald K H Liem
Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy is the most prevalent inherited peripheral neuropathy and is associated with over 90 causative genes. Mutations in neurofilament light polypeptide gene, NEFL cause CMT2E, an axonal form of CMT that results in abnormal structures and/or functions of peripheral axons in spinal cord motor neurons and dorsal root ganglion neurons. We have previously generated and characterized a knock-in mouse model of CMT2E with the N98S mutation in Nefl that presented with multiple inclusions in spinal cord neurons...
2017: PloS One
https://www.readbyqxmd.com/read/28654459/hodgkin-lymphoma-in-a-patient-with-ifap-syndrome-a-case-report-and-review-of-literature
#4
Nader Shakibazad, Mahdi Shahriari, Soroor Inaloo
The IFAP syndrome is a rare X-linked recessive inheritance disorder with defect of the MBTPS2 gene defined by the triad of follicular ichthyosis, alopecia, and photophobia. A total of 40 cases has been reported, but no correlation with Hodgkin lymphoma has been reported yet. A 3.5-year-old boy was diagnosed with IFAP syndrome confirmed by Next Generation Sequencing. He was on regular follow-up when he developed prolonged fever and lymphadenopathy. His lymph node biopsy showed Hodgkin lymphoma with mixed cellularity subtype...
June 26, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28654420/lineage-commitment-of-embryonic-cells-involves-mek1-dependent-clearance-of-pluripotency-regulator-ventx2
#5
Pierluigi Scerbo, Leslie Marchal, Laurent Kodjabachian
During early embryogenesis, cells must exit pluripotency and commit to multiple lineages in all germ-layers. How this transition is operated in vivo is poorly understood. Here, we report that MEK1 and the Nanog-related transcription factor Ventx2 coordinate this transition. MEK1 was required to make Xenopus pluripotent cells competent to respond to all cell fate inducers tested. Importantly, MEK1 activity was necessary to clear the pluripotency protein Ventx2 at the onset of gastrulation. Thus, concomitant MEK1 and Ventx2 knockdown restored the competence of embryonic cells to differentiate...
June 27, 2017: ELife
https://www.readbyqxmd.com/read/28653895/cancer-risk-in-patients-with-peutz-jeghers-syndrome-a-retrospective-cohort-study-of-336-cases
#6
Hong-Yu Chen, Xiao-Wei Jin, Bai-Rong Li, Ming Zhu, Jing Li, Gao-Ping Mao, Ya-Fei Zhang, Shou-Bin Ning
Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by mucocutaneous pigmentation and hamartomatous gastrointestinal polyposis. A growing body of evidence has shown that Peutz-Jeghers syndrome could cause an increased risk of various cancers, yet the range of cancer risk estimates was wide among different studies. In this retrospective cohort study, 336 patients with Peutz-Jeghers syndrome in China were enrolled. The clinical characteristics, cancer spectrum, relative cancer risks, and cumulative cancer risks were analyzed...
June 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28653383/hyperoxaluria-hyperglycoluria-and-renal-oxalosis-in-gilbert-s-potoroos-potorous-gilbertii
#7
D Forshaw, A M Horwitz, K Ellard, J A Friend, L Greed, M Metz
CASE REPORT: Six Gilbert's potoroos (Potorous gilbertii) in a captive colony, five of which were closely related, died or were euthanased with severe renal disease. Clinical signs were mostly non-specific. Renal calculi were seen on ultrasound of two affected potoroos and oxalate crystalluria was seen in two of three affected potoroos that had urine samples examined. Necropsies revealed extensive severe renal oxalosis in all affected potoroos. These findings and markedly increased concentrations of glycolate in the urine of the four affected potoroos for which it was measured, confirmed a disorder of oxalate metabolism and suggested a condition similar to primary hyperoxaluria type 1 in humans...
July 2017: Australian Veterinary Journal
https://www.readbyqxmd.com/read/28653374/a-familial-mediterranean-fever-flare-induced-by-a-drug-reaction-with-eosinophilia-and-systemic-symptoms
#8
A Deschamps, A Samain, P Carvalho, P Courville, H Levesque, P Musette, P Joly
Familial Mediterranean Fever (FMF) is an autosomal recessive inherited auto-inflammatory disease revealed by flare episodes characterized by systemic symptoms (pleural, joint serositis, abdominal pain…) that are triggered by infections, cold or menstruations. Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) is a severe cutaneous adverse reaction characterized by visceral involvement and viral reactivation including HHV6, HHV7, EBV, CMV… and may be associated with certain HLA alleles. This article is protected by copyright...
June 27, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28653322/differentiating-the-cochran-armitage-trend-test-and-pearson-s-%C3%AF-2-test-location-and-dispersion
#9
Zhengyang Zhou, Hung-Chih Ku, Zhipeng Huang, Guan Xing, Chao Xing
In genetic case-control association studies, a standard practice is to perform the Cochran-Armitage (CA) trend test with 1 degree-of-freedom (d.f.) under the assumption of an additive model. However, when the true genetic model is recessive or near recessive, it is outperformed by Pearson's χ(2) test with 2 d.f. In this article, we analytically reveal the statistical basis that leads to the phenomenon. First, we show that the CA trend test examines the location shift between the case and control groups, whereas Pearson's χ(2) test examines both the location and dispersion shifts between the two groups...
June 27, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28653109/the-life-of-psi
#10
REVIEW
Brian Cox, Mick Tuite
The AAA+ disaggregase Hsp104 is essential for the maintenance and inheritance of nearly all known prions of the yeast Saccharomyces cerevisiae. Uniquely for [PSI (+)], the prion form of the Sup35 protein, there seem to be two activities, involving differing co-chaperones, by which Hsp104 affects the inheritance of [PSI (+)], the prion form of the Sup35 protein. Each pathway is also involved in protection against ageing, one through disaggregation of damaged proteins and the other through their retention in the mother cell during budding...
June 26, 2017: Current Genetics
https://www.readbyqxmd.com/read/28653074/parameterization-of-a-coarse-grained-model-with-short-ranged-interactions-for-modeling-fuel-cell-membranes-with-controlled-water-uptake
#11
Jibao Lu, Chance Miller, Valeria Molinero
The design of polymer electrolyte membranes with controlled water uptake is of high importance for high-performance fuel cells, because the water content of the membranes modulates their conductivity, chemical stability and mechanical strength. The water activity aw controls the equilibrium water uptake of a system. Predicting aw of materials is currently a daunting challenge for molecular simulations, because calculations of water activity require grand canonical simulations that are extremely expensive even with classical non-polarizable force fields...
June 27, 2017: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/28652721/alpha-1-antitrypsin-pi-sz-genotype-estimated-prevalence-and-number-of-sz-subjects-worldwide
#12
Ignacio Blanco, Patricia Bueno, Isidro Diego, Sergio Pérez-Holanda, Beatriz Lara, Francisco Casas-Maldonado, Cristina Esquinas, Marc Miravitlles
The alpha-1 antitrypsin (AAT) haplotype Pi*S, when inherited along with the Pi*Z haplotype to form a Pi*SZ genotype, can be associated with pulmonary emphysema in regular smokers, and less frequently with liver disease, panniculitis, and systemic vasculitis in a small percentage of people, but this connection is less well established. Since the detection of cases can allow the application of preventive measures in patients and relatives with this congenital disorder, the objective of this study was to update the prevalence of the SZ genotype to achieve accurate estimates of the number of Pi*SZ subjects worldwide, based on studies performed according to the following criteria: 1) samples representative of the general population, 2) AAT phenotyping characterized by adequate methods, and 3) selection of studies with reliable results assessed with a coefficient of variation calculated from the sample size and 95% confidence intervals...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28652416/mitochondrial-membrane-dynamics-and-inherited-optic-neuropathies
#13
REVIEW
Eleni Bagli, Anastasia K Zikou, Niki Agnantis, Georgios Kitsos
Inherited optic neuropathies are a genetically diverse group of disorders mainly characterized by visual loss and optic atrophy. Since the first recognition of Leber's hereditary optic neuropathy, several genetic defects altering primary mitochondrial respiration have been proposed to contribute to the development of syndromic and non-syndromic optic neuropathies. Moreover, the genomics and imaging revolution in the past decade has increased diagnostic efficiency and accuracy, allowing recognition of a link between mitochondrial dynamics machinery and a broad range of inherited neurodegenerative diseases involving the optic nerve...
July 2017: In Vivo
https://www.readbyqxmd.com/read/28652098/mutation-analysis-of-the-tubb8-gene-in-nine-infertile-women-with-oocyte-maturation-arrest
#14
Lingli Huang, Xianhong Tong, Lihua Luo, Shengxia Zheng, Rentao Jin, Yingyun Fu, Guixiang Zhou, Daojing Li, Yusheng Liu
Mutations in the tubulin beta 8 class VIII (TUBB8) gene have been proven to cause oocyte maturation arrest. The aim of this study was to describe newly discovered mutations in TUBB8 and to investigate the prevalence of TUBB8 mutations in our cohort. Nine women with oocyte maturation arrest and 100 fertile female controls were recruited. Sanger sequencing of the coding regions of TUBB8 revealed a heterozygous variant c.535G > A (p.V179M) in two unrelated affected individuals and a heterozygous variant c.5G > T (p...
June 13, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28651630/maternal-inheritance-of-bifidobacterial-communities-and-bifidophages-in-infants-through-vertical-transmission
#15
Sabrina Duranti, Gabriele Andrea Lugli, Leonardo Mancabelli, Federica Armanini, Francesca Turroni, Kieran James, Pamela Ferretti, Valentina Gorfer, Chiara Ferrario, Christian Milani, Marta Mangifesta, Rosaria Anzalone, Moreno Zolfo, Alice Viappiani, Edoardo Pasolli, Ilaria Bariletti, Rosarita Canto, Rosanna Clementi, Marina Cologna, Tiziana Crifò, Giuseppina Cusumano, Sabina Fedi, Stefania Gottardi, Claudia Innamorati, Caterina Masè, Daniela Postai, Daniela Savoi, Massimo Soffiati, Saverio Tateo, Anna Pedrotti, Nicola Segata, Douwe van Sinderen, Marco Ventura
BACKGROUND: The correct establishment of the human gut microbiota represents a crucial development that commences at birth. Different hypotheses propose that the infant gut microbiota is derived from, among other sources, the mother's fecal/vaginal microbiota and human milk. RESULTS: The composition of bifidobacterial communities of 25 mother-infant pairs was investigated based on an internal transcribed spacer (ITS) approach, combined with cultivation-mediated and genomic analyses...
June 26, 2017: Microbiome
https://www.readbyqxmd.com/read/28651540/cattle-phenotypes-can-disguise-their-maternal-ancestry
#16
Kanokwan Srirattana, Kieren McCosker, Tim Schatz, Justin C St John
BACKGROUND: Cattle are bred for, amongst other factors, specific traits, including parasite resistance and adaptation to climate. However, the influence and inheritance of mitochondrial DNA (mtDNA) are not usually considered in breeding programmes. In this study, we analysed the mtDNA profiles of cattle from Victoria (VIC), southern Australia, which is a temperate climate, and the Northern Territory (NT), the northern part of Australia, which has a tropical climate, to determine if the mtDNA profiles of these cattle are indicative of breed and phenotype, and whether these profiles are appropriate for their environments...
June 26, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28651536/genomic-selection-for-crossbred-performance-accounting-for-breed-specific-effects
#17
Marcos S Lopes, Henk Bovenhuis, André M Hidalgo, Johan A M van Arendonk, Egbert F Knol, John W M Bastiaansen
BACKGROUND: Breed-specific effects are observed when the same allele of a given genetic marker has a different effect depending on its breed origin, which results in different allele substitution effects across breeds. In such a case, single-breed breeding values may not be the most accurate predictors of crossbred performance. Our aim was to estimate the contribution of alleles from each parental breed to the genetic variance of traits that are measured in crossbred offspring, and to compare the prediction accuracies of estimated direct genomic values (DGV) from a traditional genomic selection model (GS) that are trained on purebred or crossbred data, with accuracies of DGV from a model that accounts for breed-specific effects (BS), trained on purebred or crossbred data...
June 26, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28651360/novel-reproductive-technologies-to-prevent-mitochondrial-disease
#18
Lyndsey Craven, Mao-Xing Tang, Gráinne S Gorman, Petra De Sutter, Björn Heindryckx
BACKGROUND: The use of nuclear transfer (NT) has been proposed as a novel reproductive treatment to overcome the transmission of maternally-inherited mitochondrial DNA (mtDNA) mutations. Pathogenic mutations in mtDNA can cause a wide-spectrum of life-limiting disorders, collectively known as mtDNA disease, for which there are currently few effective treatments and no known cures. The many unique features of mtDNA make genetic counselling challenging for women harbouring pathogenic mtDNA mutations but reproductive options that involve medical intervention are available that will minimize the risk of mtDNA disease in their offspring...
June 23, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28650593/hhv-6-in-liver-transplantation-a-literature-review
#19
REVIEW
Tuan L Phan, Irmeli Lautenschlager, Raymund R Razonable, Flor M Munoz
Human herpesvirus 6 (HHV-6A and HHV-6B) can cause primary infection or reactivate from latency in liver transplant recipients, which can result in a variety of clinical syndromes, including fever, hepatitis, encephalitis, and higher rates of graft dysfunction as well as indirect effects including increased risks of mortality, CMV disease, hepatitis C progression and greater fibrosis scores. Although HHV-6 infection is currently diagnosed by quantifying viral DNA in plasma or blood, biopsy to demonstrate histopathologic effects of HHV-6 remains the gold standard for diagnosis of end-organ disease...
June 26, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28650581/deficiency-of-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe-infantile-onset-leukoencephalopathy
#20
Benjamin E Theisen, Anastasia Rumyantseva, Julie S Cohen, Wendy A Alcaraz, Deepali N Shinde, Sha Tang, Siddarth Srivastava, Jonathan Pevsner, Aleksandra Trifunovic, Ali Fatemi
Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not been associated with disease in humans. A case of a family with pathogenic variants in WARS2 that caused mainly intellectual disability, speech impairment, aggressiveness, and athetosis was recently reported...
June 26, 2017: American Journal of Medical Genetics. Part A
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