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https://www.readbyqxmd.com/read/28735012/fgwas-functional-genome-wide-association-analysis
#1
Chao Huang, Paul Thompson, Yalin Wang, Yang Yu, Jingwen Zhang, Dehan Kong, Rivka R Colen, Rebecca C Knickmeyer, Hongtu Zhu
Functional phenotypes (e.g., subcortical surface representation), which commonly arise in imaging genetic studies, have been used to detect putative genes for complexly inherited neuropsychiatric and neurodegenerative disorders. However, existing statistical methods largely ignore the functional features (e.g., functional smoothness and correlation). The aim of this paper is to develop a functional genome-wide association analysis (FGWAS) framework to efficiently carry out whole-genome analyses of functional phenotypes...
July 19, 2017: NeuroImage
https://www.readbyqxmd.com/read/28734179/computational-analysis-for-the-determination-of-deleterious-nssnps-in-human-mthfd1-gene
#2
Mansi Desai, J B Chauhan
Single nucleotide polymorphisms (SNPs) are the most common genetic polymorphisms and play a major role in many inherited diseases. Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) is one of the enzymes involved in folate metabolism. In the present study, the functional and structural consequences of nsSNPs of human MTHFD1 gene was analyzed using various computational tools like SIFT, PolyPhen2, PANTHER, PROVEAN, SNAP2, nsSNPAnalyzer, PhD-SNP, SNPs&GO, I-Mutant, MuPro, ConSurf, InterPro, NCBI Conserved Domain Search tool, ModPred, SPARKS-X, RAMPAGE, FT Site and PyMol...
July 11, 2017: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/28734073/differential-calcium-sensitivity-in-nav-1-5-mixed-syndrome-mutants
#3
Mena Abdelsayed, Alban-Elouen Baruteau, Karen Gibbs, Shubhayan Sanatani, Andrew D Krahn, Vincent Probst, Peter C Ruben
INTRODUCTION: Inherited arrhythmias may arise from mutations in the SCN5a gene, which encodes the cardiac voltage-gated sodium channel, NaV 1.5. Mutants in NaV 1.5 result in Brugada Syndrome (BrS1), Long-QT Syndrome (LQT3), or mixed syndromes (an overlap of BrS1/LQT3). Exercise is a potential arrhythmogenic trigger in mixed syndromes. We sought to determine the effects of elevated cytosolic calcium, common during exercise, in mixed syndrome NaV 1.5 mutants. METHODS: We used whole-cell patch-clamp to assess the biophysical properties of NaV 1...
July 22, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28733970/new-genes-causing-hereditary-parkinson-s-disease-or-parkinsonism
#4
REVIEW
Andreas Puschmann
PURPOSE OF REVIEW: This article reviews was to review genes where putative or confirmed pathogenic mutations causing Parkinson's disease or Parkinsonism have been identified since 2012, and summarizes the clinical and pathological picture of the associated disease subtypes. RECENT FINDINGS: Newly reported genes for dominant Parkinson's disease are DNAJC13, CHCHD2, and TMEM230. However, the evidence for a disease-causing role is not conclusive, and further genetic and functional studies are warranted...
September 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28733362/loss-of-cln5-causes-altered-neurogenesis-in-a-childhood-neurodegenerative-disorder
#5
E Savchenko, Y Singh, H Konttinen, K Lejavova, L Mediavilla Santos, A Grubman, V Kärkkäinen, V Keksa-Goldsteine, N Naumenko, P Tavi, A R White, T M Malm, J Koistinaho, K M Kanninen
Neural stem/progenitor cells (NPCs) generate new neurons in the brain throughout the lifetime in an intricate process called neurogenesis. Neurogenic alterations are a common feature of several adult-onset neurodegenerative diseases. The neuronal ceroid lipofuscinoses (NCLs) are the most common group of inherited neurodegenerative diseases that mainly affect children. Pathological features of the NCLs include accumulation of lysosomal storage material, neuroinflammation, and neuronal degeneration, yet the exact cause of this group of diseases remains poorly understood...
July 21, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28733223/sequencing-of-fic1-bsep-and-mdr3-in-a-large-cohort-of-patients-with-cholestasis-revealed-a-high-number-of-different-genetic-variants
#6
Carola Dröge, Michele Bonus, Ulrich Baumann, Caroline Klindt, Elke Lainka, Simone Kathemann, Florian Brinkert, Enke Grabhorn, Eva-Doreen Pfister, Daniel Wenning, Alexander Fichtner, Daniel N Gotthardt, Karl Heinz Weiss, Patrick McKiernan, Ratna Dua Puri, I C Verma, Stefanie Kluge, Holger Gohlke, Lutz Schmitt, Ralf Kubitz, Dieter Häussinger, Verena Keitel
BACKGROUND&AIMS: The bile salt export pump (BSEP, ABCB11), multidrug resistance protein 3 (MDR3, ABCB4) and the ATPase familial intrahepatic cholestasis 1 (FIC1, ATP8B1) mediate bile formation. Mutations in these genes underlie cholestatic liver diseases ranging from intrahepatic cholestasis of pregnancy, benign recurrent intrahepatic cholestasis or low phospholipid-associated cholelithiasis to progressive familial intrahepatic cholestasis. METHODS: Coding exons with flanking intron regions of ATP8B1, ABCB11, and ABCB4 were sequenced in cholestatic patients with assumed genetic cause...
July 18, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28732364/a-novel-heterozygous-germline-deletion-in-msh2-gene-in-a-five-generation-chinese-family-with-lynch-syndrome
#7
Bin Wu, Wuyang Ji, Shengran Liang, Chao Ling, Yan You, Lai Xu, Min-Er Zhong, Yi Xiao, Hui-Zhong Qiu, Jun-Yang Lu, Santasree Banerjee
Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five generation Chinese family with LS clinically diagnosed according to the Amsterdam II criteria...
July 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732149/beware-of-the-origin-of-numbers-standard-scoring-of-the-sf-12-and-sf-36-summary-measures-distorts-measurement-and-score-interpretations
#8
Peter Hagell, Albert Westergren, Kristofer Årestedt
The 12-item Short Form Health Survey (SF-12) is a generic health rating scale developed to reproduce the Physical and Mental Component Summary scores (PCS and MCS, respectively) of a longer survey, the SF-36. The standard PCS/MCS scoring algorithm has been criticized because its expected dimensionality often lacks empirical support, scoring is based on the assumption that physical and mental health are uncorrelated, and because scores on physical health items influence MCS scores, and vice versa. In this paper, we review the standard PCS/MCS scoring algorithm for the SF-12 and consider alternative scoring procedures: the RAND-12 Health Status Inventory (HSI) and raw sum scores...
August 2017: Research in Nursing & Health
https://www.readbyqxmd.com/read/28731987/evidence-of-heritable-determinants-of-decompression-sickness-in-rats
#9
Jacky Lautridou, Peter Buzzacott, Marc Belhomme, Emmanuel Dugrenot, Pierre Lafère, Costantino Balestra, François Guerrero
INTRODUCTION: Decompression sickness (DCS) is a complex and poorly understood systemic disease caused by inadequate desaturation following a decrease of ambient pressure. Strong variability between individuals is observed for DCS occurrence. This raises questions concerning factors that may be involved in the inter-individual variability of DCS occurrence. This study aimed to experimentally assess the existence of heritable factors involved in DCS occurrence by selectively breeding individuals resistant to DCS from a population stock of wistar rats...
July 20, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28731716/the-inheritance-angle-a-determinant-for-the-number-of-members-in-the-substituted-cucurbit-n-uril-family
#10
Yi Zhao, Vijaybabu Mandadapu, Hasti Iranmanesh, Jonathon E Beves, Anthony I Day
Two new glycoluril diethers have been prepared, bearing strained cyclobutene and cyclobutane rings at the fused junction of the two imidazolidinone rings. The wide angle of the concave face of the cyclobutano derivative enabled the synthesis of cyclobutanocucurbit[5-8]uril, the largest member being the most significant achievement. A limited binding affinity study compared the new substituted family to classical cucurbit[5-8]uril. Surprisingly lower affinities were found, except for cyclobutanocucurbit[6]uril, which was 3...
July 21, 2017: Organic Letters
https://www.readbyqxmd.com/read/28731581/the-inherited-risk-of-retained-placenta-a-population-based-cohort-study
#11
Margit Endler, Sven Cnattingius, Michaela Granfors, Anna-Karin Wikström
OBJECTIVE: To investigate whether retained placenta in the first generation is associated with an increased risk of retained placenta in the second generation. DESIGN: Population-based cohort study. SETTING: Sweden. POPULATION: Using linked generational data from the Swedish Medical Birth Register 1973-2012, we identified 494,000 second generation births with information on the birth of the mother (first generation index birth)...
July 21, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28731215/hypophosphatasia-in-adults-clinical-assessment-and-treatment-considerations
#12
Jay R Shapiro, E Michael Lewiecki
Hypophosphatasia (HPP) is a rare inherited disorder of bone affecting approximately 500-600 known individuals in the US. HPP is due to mutations involving the gene for tissue non-specific alkaline phosphatase. Five clinical types of HPP are recognized. The clinical presentation of HPP varies from devastating prenatal intrauterine disease to mild manifestations in adulthood. In adults, main clinical involvement includes early loss of primary or secondary teeth, osteoporosis, bone pain, chondrocalcinosis, and fractures...
July 21, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28730825/the-implication-of-ampa-receptor-in-synaptic-plasticity-impairment-and-intellectual-disability-in-fragile-x-syndrome
#13
G-R Cheng, X-Y Li, Y-D Xiang, D Liu, S M McClintock, Y Zeng
Fragile X syndrome (FXS) is the most frequently inherited form of intellectual disability and prevalent single-gene cause of autism. A priority of FXS research is to determine the molecular mechanisms underlying the cognitive and social functioning impairments in humans and the FXS mouse model. Glutamate ionotropic alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptors (AMPARs) mediate a majority of fast excitatory neurotransmission in the central nervous system and are critically important for nearly all aspects of brain function, including neuronal development, synaptic plasticity, and learning and memory...
July 18, 2017: Physiological Research
https://www.readbyqxmd.com/read/28730763/dna-mismatch-repair-deficiency-in-lung-and-oral-cavity-carcinomas-the-role-of-histogenetic-origin
#14
Konstantina N Spetsotaki, Evangelos Tsiambas, Athanasios Stamatelopoulos, Panagiotis P Fotiades, Ioannis Kastanioudakis, Pericles Tomos, Vasileios Ragos
DNA mismatch repair system (DNA MMR) is a crucial genetic mechanism for DNA homeostasis in prokaryotic and eukaryotic cells. During DNA replication and also recombination, point intra-nucleotide errors including base deletion, insertion, and mis-incorporation happen. These raised abnormalities in the newly synthesized DNA strand could affect negatively the stability of the molecule and the function of the corresponding genes. DNA MMR proteins prevent these errors by recognizing and repairing them, securing directly the normal anatomy of the DNA double strand and indirectly the expression of the genes...
May 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28730668/recurrent-triploid-digynic-conceptions-and-mature-ovarian-teratomas-are-they-different-manifestations-of-the-same-genetic-defect
#15
Yassemine Khawajkie, William Buckett, Ngoc Minh Phuong Nguyen, Nawel Mechtouf, Asangla Ao, Jocelyne Arseneau, Rima Slim
Miscarriages affect 15% of clinically recognized pregnancies. Recurrent miscarriage (RM) is defined by the occurrence of at least two consecutive pregnancy losses and affects 1% to 5% of couples trying to conceive. In an attempt to categorize patients with RM and identify the mechanisms leading to their miscarriages, we first used flow cytometry to assess the ploidy of 93 products of conception (POCs) from 53 patients with RM (≥ 3 miscarriages). We identified a single patient with four triploid POCs. We then used fluorescent in situ hybridization to confirm the triploidies and fluorescent microsatellite genotyping with distal and pericentromeric markers to determine their parental origin and the mechanisms leading to their formation...
July 21, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28729415/an-essential-role-for-the-tumor-suppressor-merlin-in-regulating-fatty-acid-synthesis
#16
Dina S Stepanova, Galina Semenova, Yin-Ming Kuo, Andrew J Andrews, Sylwia Ammoun, C Oliver Hanemann, Jonathan Chernoff
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple tumors in the central nervous system, most notably schwannomas and meningiomas. Mutational inactivation of the NF2 gene encoding the protein Merlin is found in most sporadic and inherited schwannomas, but the molecular mechanisms underlying neoplastic changes in schwannoma cells remain unclear. We report here that NF2-deficient cells display elevated expression levels of key enzymes involved in lipogenesis and that this upregulation is caused by increased activity of Torc1...
July 20, 2017: Cancer Research
https://www.readbyqxmd.com/read/28729193/the-pattern-of-retinal-ganglion-cell-dysfunction-in-leber-hereditary-optic-neuropathy
#17
A Majander, A G Robson, C João, G E Holder, P F Chinnery, A T Moore, M Votruba, A Stockman, P Yu-Wai-Man
Leber inherited optic neuropathy (LHON) is characterized by subacute bilateral loss of central vision due to dysfunction and loss of retinal ganglion cells (RGCs). Comprehensive visual electrophysiological investigations (including pattern reversal visual evoked potentials, pattern electroretinography and the photopic negative response) performed on 13 patients with acute and chronic LHON indicate early impairment of RGC cell body function and severe axonal dysfunction. Temporal, spatial and chromatic psychophysical tests performed on 7 patients with acute LHON and 4 patients with chronic LHON suggest severe involvement or loss of the midget, parasol and bistratified RGCs associated with all three principal visual pathways...
July 17, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28728941/comparison-of-calcimimetic-r568-and-calcitriol-in-mineral-homeostasis-in-the-hyp-mouse-a-murine-homolog-of-x-linked-hypophosphatemia
#18
Maren Leifheit-Nestler, Julia Kucka, Emi Yoshizawa, Geert Behets, Patrick D'Haese, Christian Bergen, Martin Meier, Dagmar-Christiane Fischer, Dieter Haffner
X-linked hypophosphatemia (XLH) caused by mutations in the Phex gene is the most common human inherited phosphate wasting disorder characterized by enhanced synthesis of fibroblast growth factor 23 (FGF23) in bone, renal phosphate wasting, 1,25(OH)2D3 (1,25D) deficiency, rickets and osteomalacia. Here we studied the effects of calcimimetic R568 and calcitriol treatment in the Hyp mouse, a murine homolog of XLH. We hypothesized that mineral homeostasis is differentially affected by R568 and 1,25D with respect to the PTH-vitamin D-FGF23-Klotho axis and bone health...
July 18, 2017: Bone
https://www.readbyqxmd.com/read/28728837/epileptic-apnea-in-a-patient-with-inherited-glycosylphosphatidylinositol-anchor-deficiency-and-pigt-mutations
#19
Kosuke Kohashi, Akihiko Ishiyama, Shota Yuasa, Tomomi Tanaka, Kazushi Miya, Yuichi Adachi, Noriko Sato, Hirotomo Saitsu, Chihiro Ohba, Naomichi Matsumoto, Yoshiko Murakami, Taroh Kinoshita, Kenji Sugai, Masayuki Sasaki
We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with decreased serum alkaline phosphatase associated with compound PIGT mutations. The patient exhibited congenital anomalies, severe intellectual disability, and seizures, including epileptic apnea with epileptiform discharges from bilateral temporal areas. Brain magnetic resonance imaging revealed delayed myelination and progressive atrophy of the brainstem, cerebellum, and cerebrum...
July 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/28728147/efficient-maximum-likelihood-estimation-for-pedigree-data-with-the-sum-product-algorithm
#20
Alexander Engelhardt, Anna Rieger, Achim Tresch, Ulrich Mansmann
OBJECTIVE: We analyze data sets consisting of pedigrees with age at onset of colorectal cancer (CRC) as phenotype. The occurrence of familial clusters of CRC suggests the existence of a latent, inheritable risk factor. We aimed to compute the probability of a family possessing this risk factor as well as the hazard rate increase for these risk factor carriers. Due to the inheritability of this risk factor, the estimation necessitates a costly marginalization of the likelihood. METHODS: We propose an improved EM algorithm by applying factor graphs and the sum-product algorithm in the E-step...
July 21, 2017: Human Heredity
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