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https://www.readbyqxmd.com/read/27926992/inherited-diseases-caused-by-mutations-in-cathepsin-protease-genes
#1
REVIEW
Stephanie Ketterer, Alejandro Gomez-Auli, Larissa E Hillebrand, Agnese Petrera, Anett Ketscher, Thomas Reinheckel
Lysosomal cathepsins are proteolytic enzymes increasingly recognized as prognostic markers and potential therapeutic targets in a variety of diseases. In those conditions the cathepsins are mostly overexpressed, thereby driving the respective pathogenic processes. Although less known, there are also diseases with a genetic deficiency of cathepsins. In fact, nowadays six out of the fifteen human proteases called "cathepsins" have been linked to inherited syndromes. However, only three of these syndromes are typical lysosomal storage diseases, while the others are apparently caused by defective cleavage of specific protein substrates...
December 7, 2016: FEBS Journal
https://www.readbyqxmd.com/read/27926951/a-novel-mutation-of-the-calcium-sensing-receptor-gene-in-a-franconian-kindred-heterozygous-mutation-c-1697_1698deltg-exon-6
#2
M Cordes, T Kuwert, C Haag, F Raue
Familial hypocalciuric hypercalcemia (FHH) belongs to the disorders of a disturbed calcium homeostasis. Genetically, the disorder is inherited in an autosomal-dominant trait and represents an inactivating mutation of the calcium sensing receptor (CaSR) gene. We identified a Franconian kindred in which 6 individuals could be tested by molecular genetic means. In 5 individuals of 3 generations, the mutation could be classified as c.1697_1698delTG. This novel germline mutation creates a premature stop codon leading to a loss of 510 amino acids of the protein...
December 7, 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27926527/meqtl-analysis-of-childhood-obesity-links-epigenetics-with-a-risk-snp-rs17782313-near-mc4r-from-meta-analysis
#3
Yuping Tang, Bo Jin, Lingling Zhou, Weifeng Lu
Earlier GWAS has identified that rs17782313 near MC4R was associated with obesity. However, subsequent studies showed conflicting results, especially among childhood. Besides, the mechanisms underlying the association between rs17782313 and childhood obesity remain largely unexplored, and genetic and epigenetic may interact and together affect the development of childhood obesity. We conducted a comprehensive meta-analysis to assess the association between rs17782313 and childhood obesity. MeQTL and eQTL analysis was applied to explore the effect of rs17782313 on DNA methylation and MC4R expression...
December 1, 2016: Oncotarget
https://www.readbyqxmd.com/read/27926368/genetic-syndromes-with-pancreatic-manifestations
#4
REVIEW
Meredith E Pittman, Lodewijk A A Brosens, Laura D Wood
Although the pancreas is affected by only a small fraction of known inherited disorders, several of these syndromes predispose patients to pancreatic adenocarcinoma, a cancer that has a consistently dismal prognosis. Still other syndromes are associated with neuroendocrine tumors, benign cysts, or recurrent pancreatitis. Because of the variability of pancreatic manifestations and outcomes, it is important for clinicians to be familiar with several well-described genetic disorders to ensure that patients are followed appropriately...
December 2016: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/27925749/persistent-skyrmion-lattice-of-noninteracting-electrons-with-spin-orbit-coupling
#5
Jiyong Fu, Poliana H Penteado, Marco O Hachiya, Daniel Loss, J Carlos Egues
A persistent spin helix (PSH) is a robust helical spin-density pattern arising in disordered 2D electron gases with Rashba α and Dresselhaus β spin-orbit (SO) tuned couplings, i.e., α=±β. Here, we investigate the emergence of a persistent Skyrmion lattice (PSL) resulting from the coherent superposition of PSHs along orthogonal directions-crossed PSHs-in wells with two occupied subbands ν=1, 2. For realistic GaAs wells, we show that the Rashba α_{ν} and Dresselhaus β_{ν} couplings can be simultaneously tuned to equal strengths but opposite signs, e...
November 25, 2016: Physical Review Letters
https://www.readbyqxmd.com/read/27925341/skeletal-muscle-atrophy-is-induced-by-fbxw7%C3%AE-via-atrogene-upregulation
#6
Kyungshin Shin, Young-Gyu Ko, Jaemin Jeong, Heechung Kwon
Muscle atrophy decreases skeletal muscle mass and is induced by inherited cachectic symptoms, genetic disorders, and sarcopenia. However, the molecular pathways associated with the onset of muscle atrophy are still unclear. In this study, we evaluated Fbxw7β, a gene associated with the development of muscle atrophy in vitro and in vivo. Among the three Fbxw7 isoforms, ectopically overexpressed Fbxw7β induced the expression of myogenin and major atrogene markers (atrogin-1 and MuRF-1) and reduced myoblast differentiation...
December 7, 2016: Cell Biology International
https://www.readbyqxmd.com/read/27925158/mutations-in-dync2h1-the-cytoplasmic-dynein-2-heavy-chain-1-motor-protein-gene-cause-short-rib-polydactyly-type-i-saldino-noonan-type
#7
Nora Badiner, Stephanie Paige Taylor, Kimberly Forlenza, Ralph S Lachman, Michael Bamshad, Deborah Nickerson, Daniel H Cohn, Deborah Krakow
The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I-IV, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among all forms of SRP include short horizontal ribs, short limbs and polydactyly. The SRP type I phenotype is characterized by a very small thorax, extreme micromelia, very short, poorly mineralized long bones, and multiple organ system anomalies...
December 7, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27925151/development-of-a-clinical-diagnostic-matrix-for-characterising-inherited-epidermolysis-bullosa
#8
V K Yenamandra, C Moss, V Sreenivas, M Khan, S Sivasubbu, V K Sharma, G Sethuraman
BACKGROUND: Accurately diagnosing the subtype of Epidermolysis Bullosa (EB) is critical for management and genetic counseling. Modern laboratory techniques are largely inaccessible in developing countries, where the diagnosis remains clinical and often inaccurate. OBJECTIVE OF THE STUDY: To develop a simple clinical diagnostic tool to aid in the diagnosis and sub typing of EB. METHODS: We developed a matrix indicating presence or absence of a set of distinctive clinical features (rows) for the 9 more prevalent EB subtypes (columns)...
December 7, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27925050/fetal-thrombotic-vasculopathy-a-case-report-and-literature-review
#9
Ana Berquo Peleja, Silvio Martinelli, Renata Lopes Ribeiro, Roberto Eduardo Bittar, Regina Schultz, Rossana Pulcineli Vieira Francisco
Introduction: Fetal thrombotic vasculopathy is a recently described placental alteration with varying degrees of involvement and often associated with adverse perinatal outcomes. The diagnosis is made histologically and therefore is postnatal, which makes it a challenge in clinical practice. Method: Case report and review of literature on the subject. Results: The present case refers to a pregnant woman presenting fetal growth restriction, with poor obstetrical past, and sent late to our service...
October 2016: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/27924204/combined-use-of-a-double-lumen-tube-and-fogarty-catheter-to-prevent-the-endobronchial-spread-of-infection-a-case-report
#10
Jaewon Kim, Hyelim Lee, Han Park, Chang-Young Jeong
Huntington's disease is a neurodegenerative disorder with an autosomal dominant inheritance pattern. Patients with Huntington's disease show an increased risk of aspiration pneumonia when the pharyngeal muscle is invaded. We report a case of advanced-stage Huntington's disease in which the patient received right middle lobectomy for a lung abscess caused by repeated aspiration. The best lung isolation technique has not yet been established in these patients. We successfully performed selective lobar isolation of the right lower and middle lobes using a double lumen tube and a Fogarty embolectomy catheter...
December 2016: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/27923571/a-simple-dried-blood-spot-method-for-in-vivo-measurement-of-ureagenesis-by-gas-chromatography-mass-spectrometry-using-stable-isotopes
#11
Gabriella Allegri, Sereina Deplazes, Hiu Man Viecelli, Déborah Mathis, Ralph Fingerhut, Johannes Häberle, Beat Thöny
BACKGROUND: Clinical management of inherited or acquired hyperammonemia depends mainly on the plasma ammonia level which is not a reliable indicator of urea cycle function as its concentrations largely fluctuate. The gold standard to assess ureagenesis in vivo is the use of stable isotopes. METHODS: Here we developed and validated a simplified in vivo method with [(15)N]ammonium chloride ([(15)N]H4Cl) as a tracer. Non-labeled and [(15)N]urea were quantified by GC-MS after extraction and silylation...
December 3, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27923195/aplastic-anemia-and-mds-international-foundation-aamdsif-bone-marrow-failure-disease-scientific-symposium-2016
#12
Amer M Zeidan, Minoo Battiwalla, Deborah Berlyne, Thomas Winkler
Patients with acquired and inherited bone marrow failure syndromes (BMFS) have ineffective hematopoiesis due to impairments of the hematopoietic stem cell compartment. Common manifestations of BMFS include varying degrees of peripheral blood cytopenias and, sometimes, progression to acute myelogenous leukemia. Research efforts have been made all over the world to improve understanding of the pathogenesis of these diseases and their clinical implications. The Aplastic Anemia and MDS International Foundation (AAMDSIF) is an independent nonprofit organization whose mission is to help patients and family members cope with BMFS...
November 24, 2016: Leukemia Research
https://www.readbyqxmd.com/read/27923120/long-oskar-controls-mitochondrial-inheritance-in-drosophila-melanogaster
#13
Thomas Ryan Hurd, Beate Herrmann, Julia Sauerwald, Justina Sanny, Markus Grosch, Ruth Lehmann
Inherited mtDNA mutations cause severe human disease. In most species, mitochondria are inherited maternally through mechanisms that are poorly understood. Genes that specifically control the inheritance of mitochondria in the germline are unknown. Here, we show that the long isoform of the protein Oskar regulates the maternal inheritance of mitochondria in Drosophila melanogaster. We show that, during oogenesis, mitochondria accumulate at the oocyte posterior, concurrent with the bulk streaming and churning of the oocyte cytoplasm...
December 5, 2016: Developmental Cell
https://www.readbyqxmd.com/read/27922637/a-human-carboxypeptidase-e-nf-%C3%AE-1-gene-mutation-in-an-alzheimer-s-disease-patient-leads-to-dementia-and-depression-in-mice
#14
Y Cheng, N X Cawley, T Yanik, S R K Murthy, C Liu, F Kasikci, D Abebe, Y P Loh
Patients with Alzheimer's disease (AD), a common dementia among the aging population, often also suffer from depression. This comorbidity is poorly understood. Although most forms of AD are not genetically inherited, we have identified a new human mutation in the carboxypeptidase E (CPE)/neurotrophic factor-α1 (NF-α1) gene from an AD patient that caused memory deficit and depressive-like behavior in transgenic mice. This mutation consists of three adenosine inserts, introducing nine amino acids, including two glutamines into the mutant protein, herein called CPE-QQ...
December 6, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27922631/dataset-of-eye-disease-related-proteins-analyzed-using-the-unfolding-mutation-screen
#15
Caitlyn L McCafferty, Yuri V Sergeev
A number of genetic diseases are a result of missense mutations in protein structure. These mutations can lead to severe protein destabilization and misfolding. The unfolding mutation screen (UMS) is a computational method that calculates unfolding propensities for every possible missense mutation in a protein structure. The UMS validation demonstrated a good agreement with experimental and phenotypical data. 15 protein structures (a combination of homology models and crystal structures) were analyzed using UMS...
December 6, 2016: Scientific Data
https://www.readbyqxmd.com/read/27922500/facioscapulohumeral-muscular-dystrophy
#16
Jeffrey M Statland, Rabi Tawil
PURPOSE OF REVIEW: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). RECENT FINDINGS: FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4. Approximately 95% of patients have FSHD type 1 (FSHD1), in which loss of DNA repetitive elements (D4Z4 repeats) in the subtelomeric region of chromosome 4q causes decreased methylation and epigenetic derepression of DUX4, a gene contained within each D4Z4 repeat...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922338/pathophysiology-of-aortic-aneurysm-insights-from-human-genetics-and-mouse-models
#17
Nicole K Wilson, Russell A Gould, Elena Gallo MacFarlane, Mibava Leducq Consortium
Aneurysms are local dilations of an artery that predispose the vessel to sudden rupture. They are often asymptomatic and undiagnosed, resulting in a high mortality rate. The predisposition to develop thoracic aortic aneurysms is often genetically inherited and associated with syndromes affecting connective tissue homeostasis. This review discusses how elucidation of the genetic causes of syndromic forms of thoracic aortic aneurysm has helped identify pathways that contribute to disease progression, including those activated by TGF-β, angiotensin II and Notch ligands...
December 6, 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27922248/recessive-congenital-methemoglobinemia-in-immediate-generations
#18
Deniz Aslan, Gülsan Türköz-Sucak, Melanie Joan Percy
We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). Molecular analysis revealed a mechanism of inheritance not reported previously, despite the high probability of occurrence in autosomal recessive disorders. This report is also the first publication describing an extremely rare mutation (Arg50Gln) causing this disorder in the Turkish population.
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922122/identification-of-critical-paralog-groups-with-indispensable-roles-in-the-regulation-of-signaling-flow
#19
Dezso Modos, Johanne Brooks, David Fazekas, Eszter Ari, Tibor Vellai, Peter Csermely, Tamas Korcsmaros, Katalin Lenti
Extensive cross-talk between signaling pathways is required to integrate the myriad of extracellular signal combinations at the cellular level. Gene duplication events may lead to the emergence of novel functions, leaving groups of similar genes - termed paralogs - in the genome. To distinguish critical paralog groups (CPGs) from other paralogs in human signaling networks, we developed a signaling network-based method using cross-talk annotation and tissue-specific signaling flow analysis. 75 CPGs were found with higher degree, betweenness centrality, closeness, and 'bowtieness' when compared to other paralogs or other proteins in the signaling network...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27922091/an-increased-duplication-of-zrs-region-that-caused-more-than-one-supernumerary-digits-preaxial-polydactyly-in-a-large-chinese-family
#20
Bin Wang, Yutao Diao, Qiji Liu, Hongqiang An, Ruiping Ma, Guosheng Jiang, Nannan Lai, Ziwei Li, Xiaoxiao Zhu, Lin Zhao, Qiang Guo, Zhen Zhang, Rong Sun, Xia Li
Preaxial polydactyly (PPD) is inherited in an autosomal dominant fashion and characterized by the presence of one or more supernumerary digits on the thumb side. It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD4) and Triphalangeal thumb-polysyndactyly syndrome (TPTPS). Most previously reported cases involved with no more than one extra finger; however, the role of the point mutation or genomic duplications of ZRS in the case of more than one redundant finger polydactyly remains unclear...
December 6, 2016: Scientific Reports
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