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https://www.readbyqxmd.com/read/28088765/allo-allo-triploid-sphagnum-%C3%A3-falcatulum-single-individuals-contain-most-of-the-holantarctic-diversity-for-ancestrally-indicative-markers
#1
Eric F Karlin, Peter E Smouse
BACKGROUND AND AIMS: Allopolyploids exhibit both different levels and different patterns of genetic variation than are typical of diploids. However, scant attention has been given to the partitioning of allelic information and diversity in allopolyploids, particularly that among homeologous monoploid components of the hologenome. Sphagnum × falcatulum is a double allopolyploid peat moss that spans a considerable portion of the Holantarctic. With monoploid genomes from three ancestral species, this organism exhibits a complex evolutionary history involving serial inter-subgeneric allopolyploidizations...
January 14, 2017: Annals of Botany
https://www.readbyqxmd.com/read/28088283/quantification-of-plasma-sulfatides-by-mass-spectrometry-utility-for-metachromatic-leukodystrophy
#2
Jennifer T Saville, Nicholas J C Smith, Janice M Fletcher, Maria Fuller
Impaired sulfatide catabolism is the primary biochemical insult in patients with the inherited neurodegenerative disease, metachromatic leukodystrophy (MLD), and sulfatide elevation in body fluids is useful in the diagnostic setting. Here we used mass spectrometry to quantify fourteen species of sulfatide, in addition to the deacetylated derivative, lyso-sulfatide, using high pressure liquid chromatography-electrospray ionisation-tandem mass spectrometry in both positive and negative ion mode. A single phase extraction of 0...
February 22, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28088028/role-of-small-rnas-in-epigenetic-reprogramming-during-plant-sexual-reproduction
#3
REVIEW
German Martinez, Claudia Köhler
Sexual reproduction, the formation of a new individual from specialized reproductive cells after fertilization, involves the precise orchestration of different developmental and genomic processes. These processes are to a large extent governed by small RNAs (sRNAs) that either belong to the class of micro RNAs (miRNAs) or small-interfering RNAs (siRNAs). The latter are derived from transposable elements (TEs) and involved in genome defense and transgenerational inheritance of heterochromatin identity, ensuring genome stability...
January 11, 2017: Current Opinion in Plant Biology
https://www.readbyqxmd.com/read/28087897/fgfr1-analyses-in-four-patients-with-hypogonadotropic-hypogonadism-with-split-hand-foot-malformation-implications-for-the-promoter-region
#4
Kohnosuke Ohtaka, Yasuko Fujisawa, Fumio Takada, Yukihiro Hasegawa, Tatsuya Miyoshi, Tomonobu Hasegawa, Hideaki Miyoshi, Hiraku Kameda, Misuzu Kurokawa Seo, Maki Fukami, Tsutomu Ogata
Heterozygous loss-of-function mutations of FGFR1 cause various disorders including hypogonadotropic hypogonadism with split-hand/foot malformation (HH-SHFM). We examined FGFR1 in four Japanese patients with HH-SHFM (cases 1-4) and the mother of case 4 with HH only. Cases 1 and 2 had heterozygous loss-of-function mutations with no dominant negative effect [c.289G>A, p.(G97S); and c.2231G>C, p.(R744T)], and case 3 had a splice donor site mutation [c.1663+1G>T]. Notably, case 4 had a maternally inherited 8,312 bp microdeletion that involved non-coding exon 1U and impaired FGFR1 expression...
January 13, 2017: Human Mutation
https://www.readbyqxmd.com/read/28087777/genome-sequencing-reveals-the-origin-of-the-allotetraploid-arabidopsis-suecica
#5
Polina Yu Novikova, Takashi Tsuchimatsu, Samson Simon, Viktoria Nizhynska, Viktor Voronin, Robin Burns, Olga M Fedorenko, Svante Holm, Torbjörn Säll, Elisa Prat, William Marande, Vincent Castric, Magnus Nordborg
Polyploidy is an example of instantaneous speciation when it involves the formation of a new cytotype that is incompatible with the parental species. Because new polyploid individuals are likely to be rare, establishment of a new species is unlikely unless polyploids are able to reproduce through self-fertilization (selfing), or asexually. Conversely, selfing (or asexuality) makes it possible for polyploid species to originate from a single individual - a bona fide speciation event. The extent to which this happens is not known...
January 12, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28087774/the-origin-of-mitochondrial-cristae-from-alphaproteobacteria
#6
Sergio A Muñoz-Gómez, Jeremy G Wideman, Andrew J Roger, Claudio H Slamovits
Mitochondria are the respiratory organelles of eukaryotes and their evolutionary history is deeply intertwined with that of eukaryotes. The compartmentalization of respiration in mitochondria occurs within cristae, whose evolutionary origin has remained unclear. Recent discoveries, however, have revived the old notion that mitochondrial cristae could have had a pre-endosymbiotic origin. Mitochondrial cristae are likely homologous to the intracytoplasmic membranes (ICMs) used by diverse alphaproteobacteria for harnessing energy...
January 12, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28087737/a-homozygous-mutation-in-trim36-causes-autosomal-recessive-anencephaly-in-an-indian-family
#7
Nivedita Singh, Vishwanath Kumble Bhat, Ankana Tiwari, Srinivas G Kodaganur, Sagar J Tontanahal, Astha Sarda, K V Malini, Arun Kumar
Anencephaly is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to anencephaly. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance of anencephaly has been reported in several populations. In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C>A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive anencephaly (APH) in an Indian family...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#8
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087566/application-of-whole-exome-sequencing-in-the-clinical-diagnosis-and-management-of-inherited-cardiovascular-diseases-in-adults
#9
Sara B Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G Akar, Mark Marieb, Daniel Jacoby, Allen E Bale, Richard P Lifton, Arya Mani
BACKGROUND: With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of medical diagnosis and management and at the forefront of personalized medicine in this field. The use of whole exome sequencing for clinical diagnosis, risk stratification, and management of inherited CVD has not been previously evaluated. METHODS AND RESULTS: We analyzed the results of whole exome sequencing in first 200 adult patients with inherited CVD, who underwent genetic testing at the Yale Program for Cardiovascular Genetics...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28087452/congenital-anonychia-and-uncombable-hair-syndrome-co-inheritance-of-homozygous-mutations-in-rspo4-and-padi3
#10
Chao-Kai Hsu, Maria Teresa Romano, Arti Nanda, Ellie Rashidghamat, John Y W Lee, Hsin-Yu Huang, Chankiat Songsantiphap, Julia Yu-Yun Lee, Hejab Al-Ajmi, Regina C Betz, Michael A Simpson, John A McGrath, Christos Tziotzios
No abstract text is available yet for this article.
January 10, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28087438/dopa-responsive-dystonia-in-chinese-patients-including-a-novel-heterozygous-mutation-in-the-gch1-gene-with-an-intermediate-phenotype-and-one-case-of-prenatal-diagnosis
#11
Wen Zhang, Zhizi Zhou, Xiuzhen Li, Yonglan Huang, Taolin Li, Yunting Lin, Yongxian Shao, Hao Hu, Hongsheng Liu, Li Liu
Dopa-responsive dystonia (DRD) is a rare inherited disorder characterized by childhood-onset dystonia with diurnal fluctuation and dramatic response to levodopa. DRD is caused by the mutations in the genes encoding the enzymes involved in the dopamine and tetrahydrobiopterin (BH4) biosynthesis, including the GTP cyclohydrolase 1 (GCH1) gene and the tyrosine hydroxylase (TH) gene. In order to improve the diagnosis and expand the knowledge of the disease, we collected and analyzed relevant data of clinical diagnosis and molecular mutational analysis in five Chinese patients with DRD...
January 10, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28087227/a-novel-kindred-with-inherited-stat2-deficiency-and-severe-viral-illness
#12
Leen Moens, Lien Van Eyck, Dirk Jochmans, Tania Mitera, Glynis Frans, Xavier Bossuyt, Patrick Matthys, Johan Neyts, Michael Ciancanelli, Shen-Ying Zhang, Rik Gijsbers, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Isabelle Meyts, Adrian Liston
No abstract text is available yet for this article.
January 5, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28086898/the-intergenerational-production-of-depression-in-south-korea-results-from-a-cross-sectional-study
#13
B G Jeong, G Veenstra
BACKGROUND: Although a number of studies have uncovered relationships between parental capital and the manifestation of depression in their children, little is known about the mechanisms that undergird the relationships. This study investigates the intergenerational effects of the cultural and economic capitals of South Korean parents on depressive symptoms in their adult children and the degree to which the capitals of the adult children explain them. METHODS: We employed nationally representative cross-sectional survey data from the 2006 Korea Welfare Panel Study...
January 13, 2017: International Journal for Equity in Health
https://www.readbyqxmd.com/read/28081447/hepatic-transcriptional-responses-to-copper-in-the-three-spined-stickleback-are-affected-by-their-pollution-exposure-history
#14
Tamsyn M Uren Webster, Tim D Williams, Ioanna Katsiadaki, Anke Lange, Ceri Lewis, Janice A Shears, Charles R Tyler, Eduarda M Santos
Some fish populations inhabiting contaminated environments show evidence of increased chemical tolerance, however the mechanisms contributing to this tolerance, and whether this is heritable, are poorly understood. We investigated the responses of two populations of wild three-spined stickleback (Gasterosteus aculeatus) with different histories of contaminant exposure to an oestrogen and copper, two widespread aquatic pollutants. Male stickleback originating from two sites, the River Aire, with a history of complex pollution discharges, and Siblyback Lake, with a history of metal contamination, were depurated and then exposed to copper (46μg/L) and the synthetic oestrogen ethinyloestradiol (22ng/L)...
December 31, 2016: Aquatic Toxicology
https://www.readbyqxmd.com/read/28081261/the-role-of-tor1a-polymorphisms-in-dystonia-a-systematic-review-and-meta-analysis
#15
Vasileios Siokas, Efthimios Dardiotis, Evangelia E Tsironi, Georgios Tsivgoulis, Dimitrios Rikos, Maria Sokratous, Stylianos Koutsias, Konstantinos Paterakis, Georgia Deretzi, Georgios M Hadjigeorgiou
IMPORTANCE: A number of genetic loci were found to be associated with dystonia. Quite a few studies have been contacted to examine possible contribution of TOR1A variants to the risk of dystonia, but their results remain conflicting. The aim of the present study was to systematically evaluate the effect of TOR1A gene SNPs on dystonia and its phenotypic subtypes regarding the body distribution. METHODS: We performed a systematic review of Pubmed database to identify all available studies that reported genotype frequencies of TOR1A SNPs in dystonia...
2017: PloS One
https://www.readbyqxmd.com/read/28081193/environmental-factors-can-influence-mitochondrial-inheritance-in-the-saccharomyces-yeast-hybrids
#16
Yu-Yi Hsu, Jui-Yu Chou
Mitochondria play a critical role in the generation of metabolic energy and are crucial for eukaryotic cell survival and proliferation. In most sexual eukaryotes, mitochondrial DNA (mtDNA) is inherited from only one parent in non-Mendelian inheritance in contrast to the inheritance of nuclear DNA. The model organism Saccharomyces cerevisiae is commonly used to study mitochondrial biology. It has two mating types: MATa and MATα. Previous studies have suggested that the mtDNA inheritance patterns in hybrid diploid cells depend on the genetic background of parental strains...
2017: PloS One
https://www.readbyqxmd.com/read/28080075/cognitive-outcomes-in-early-treated-adults-with-phenylketonuria-pku-a-comprehensive-picture-across-domains
#17
Liana Palermo, Tarekegn Geberhiwot, Anita MacDonald, Ellie Limback, S Kate Hall, Cristina Romani
OBJECTIVE: Phenylketonuria (PKU) is an inherited metabolic disease which affects cognitive functions due to an inability to metabolize phenylalanine which leads to the accumulation of toxic by-products (Phe) in the brain. PKU can be effectively treated with a low phenylalanine diet, but some cognitive deficits remain. Studies have reported impairments, especially for processing speed and executive functions, but there is a lack of comprehensive assessment across cognitive domains. Moreover, it is important to establish outcomes in early treated adults with PKU (AwPKU) who have better metabolic control than groups previously reported in the literature...
January 12, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28079900/a-curated-gene-list-for-reporting-results-of-newborn-genomic-sequencing
#18
Ozge Ceyhan-Birsoy, Kalotina Machini, Matthew S Lebo, Tim W Yu, Pankaj B Agrawal, Richard B Parad, Ingrid A Holm, Amy McGuire, Robert C Green, Alan H Beggs, Heidi L Rehm
PURPOSE: Genomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major challenges hindering its broader application is the time it takes to assess the clinical relevance of detected variants and the genes they impact so that disease risk is reported appropriately. METHODS: To facilitate rapid interpretation of GS results in newborns, we curated a catalog of genes with putative pediatric relevance for their validity based on the ClinGen clinical validity classification framework criteria, age of onset, penetrance, and mode of inheritance through systematic evaluation of published evidence...
January 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28079896/impaired-embryonic-development-in-glucose-6-phosphate-dehydrogenase-deficient-caenorhabditis-elegans-due-to-abnormal-redox-homeostasis-induced-activation-of-calcium-independent-phospholipase-and-alteration-of-glycerophospholipid-metabolism
#19
Tzu-Ling Chen, Hung-Chi Yang, Cheng-Yu Hung, Meng-Hsin Ou, Yi-Yun Pan, Mei-Ling Cheng, Arnold Stern, Szecheng J Lo, Daniel Tsun-Yee Chiu
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a commonly pervasive inherited disease in many parts of the world. The complete lack of G6PD activity in a mouse model causes embryonic lethality. The G6PD-deficient Caenorhabditis elegans model also shows embryonic death as indicated by a severe hatching defect. Although increased oxidative stress has been implicated in both cases as the underlying cause, the exact mechanism has not been clearly delineated. In this study with C. elegans, membrane-associated defects, including enhanced permeability, defective polarity and cytokinesis, were found in G6PD-deficient embryos...
January 12, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28079663/general-anesthesia-and-fabry-disease-a-case-report
#20
Stefan Krüger, Albina Nowak, Torben Christoph Müller
Fabry disease is an inherited X-linked disorder characterized by the absence (in men) or deficiency (in women) in α-galactosidase A activity that causes a progressive accumulation of glycosphingolipids within lysosomes of cells of all the major organ systems. The subsequent organ damage that manifests in childhood and early adulthood presents a widely variable clinical picture of pain, hypertension, and cardiac, renal, nervous system, and lung dysfunction. We present 2 female patients with Fabry disease who required general anesthesia twice for gynecological and trauma surgery, respectively, and discuss their perioperative management based on new information in the medical literature...
January 11, 2017: A & A Case Reports
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