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https://www.readbyqxmd.com/read/29351004/duchenne-muscular-dystrophy-dmd-an-updated-review-of-common-available-therapies
#1
Arash Salmaninejad, Saeed Farajzadeh Valilou, Hadi Bayat, Nader Ebadi, Abdolreza Daraei, Meysam Yousefi, Abolfazl Nesaei, Majid Mojarrad
Duchenne muscular dystrophy (DMD) is a lethal progressive pediatric muscle disorder and genetically inherited as an X-linked disease that caused by mutations in the dystrophin gene. DMD leads to progressive muscle weakness, degeneration, and wasting; finally, follows with the premature demise in affected individual's due to respiratory and/or cardiac failure typically by age of 30. For decades, scientists tried massively to find an effective therapy method, but there is no absolute cure currently for patients with DMD, nevertheless, recent advanced progressions on the treatment of DMD will be hopeful in the future...
January 19, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29350766/untangling-the-complexity-of-limb-girdle-muscular-dystrophies
#2
REVIEW
Teerin Liewluck, Margherita Milone
Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with childhood-to-adult onset, manifesting with hip and shoulder girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants according to the Online Mendelian Inheritance in Man database. In addition, there are other genetically-identified muscular dystrophies with a LGMD phenotype not yet classified as LGMD...
January 19, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29350590/human-genetics-and-molecular-mechanisms-of-vein-of-galen-malformation
#3
Daniel Duran, Philipp Karschnia, Jonathan R Gaillard, Jason K Karimy, Mark W Youngblood, Michael L DiLuna, Charles C Matouk, Beverly Aagaard-Kienitz, Edward R Smith, Darren B Orbach, Georges Rodesch, Alejandro Berenstein, Murat Gunel, Kristopher T Kahle
Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics...
January 19, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29350460/three-generation-family-with-novel-contiguous-gene-deletion-on-chromosome-2p22-associated-with-thoracic-aortic-aneurysm-syndrome
#4
Bianca Quiñones-Pérez, Grace E VanNoy, Meghan C Towne, Yiping Shen, Michael N Singh, Pankaj B Agrawal, Sharon E Smith
Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF-ß) activation. Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). While these syndromes have distinct clinical criteria, they share clinical features including aortic root dilation and musculoskeletal findings...
January 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29350440/abrupt-burial-imparts-persistent-changes-to-the-bacterial-diversity-of-turbidite-associated-sediment-profiles
#5
B K Harrison, A Myrbo, B E Flood, J V Bailey
The emplacement of subaqueous gravity-driven sediment flows imposes a significant physical and geochemical impact on underlying sediment and microbial communities. Although previous studies have established lasting mineralogical and biological signatures of turbidite deposition, the response of bacteria and archaea within and beneath debris flows remains poorly constrained. Both bacterial cells associated with the underlying sediment and those attached to allochthonous material must respond to substantially altered environmental conditions and selective pressures...
January 19, 2018: Geobiology
https://www.readbyqxmd.com/read/29350067/soluble-neuregulin1-is-strongly-up-regulated-in-the-rat-model-of-charcot-marie-tooth-1a-disease
#6
Benedetta Elena Fornasari, Giulia Ronchi, Davide Pascal, Davide Visigalli, Giovanna Capodivento, Lucilla Nobbio, Isabelle Perroteau, Angelo Schenone, Stefano Geuna, Giovanna Gambarotta
Neuregulin1 (NRG1) is a growth factor playing a pivotal role in peripheral nerve development through the activation of the transmembrane co-receptors ErbB2-ErbB3. Soluble NRG1 isoforms, mainly secreted by Schwann cells, are strongly and transiently up-regulated after acute peripheral nerve injury, thus suggesting that they play a crucial role also in the response to nerve damage. Here we show that in the rat experimental model of the peripheral demyelinating neuropathy Charcot-Marie-Tooth 1A (CMT1A) the expression of the different NRG1 isoforms (soluble, type α and β, type a and b) is strongly up-regulated, as well as the expression of NRG1 co-receptors ErbB2-ErbB3, thus showing that CMT1A nerves have a gene expression pattern highly reminiscent of injured nerves...
January 1, 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29349785/a-novel-mlph-variant-in-dogs-with-coat-colour-dilution
#7
A Bauer, A Kehl, V Jagannathan, T Leeb
Coat colour dilution may be the result of altered melanosome transport in melanocytes. Loss-of-function variants in the melanophilin gene (MLPH) cause a recessively inherited form of coat colour dilution in many mammalian and avian species including the dog. MLPH corresponds to the D locus in many domestic animals, and recessive alleles at this locus are frequently denoted with d. In this study, we investigated dilute coloured Chow Chows whose coat colour could not be explained by their genotype at the previously known MLPH:c...
January 19, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29349439/protein-c-deficiency-resulting-from-two-mutations-in-proc-presenting-with-recurrent-venous-thromboembolism
#8
Weijia Xie, Zhenjie Liu, Bing Chen
Hereditary protein C (PC) deficiency is an autosomal dominant disorder associated with a high risk of venous thromboembolism (VTE). Here we report a case of inherited PC deficiency associated with recurrent deep venous thrombosis. Two mutations were revealed in PROC (c.1152C>G, p.N384K and c.1207G>T, p.G403W) by genetic testing. Results from this case suggest that the inherited PC deficiency due to the PROC mutations may cause recurrent VTE. Long-term anticoagulant therapy may be appropriate for these patients with recurrent VTE and hereditary PC deficiency...
December 2017: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29349278/machine-learning-approaches-to-the-social-determinants-of-health-in-the-health-and-retirement-study
#9
Benjamin Seligman, Shripad Tuljapurkar, David Rehkopf
Background: Social and economic factors are important predictors of health and of recognized importance for health systems. However, machine learning, used elsewhere in the biomedical literature, has not been extensively applied to study relationships between society and health. We investigate how machine learning may add to our understanding of social determinants of health using data from the Health and Retirement Study. Methods: A linear regression of age and gender, and a parsimonious theory-based regression additionally incorporating income, wealth, and education, were used to predict systolic blood pressure, body mass index, waist circumference, and telomere length...
April 2018: SSM—Population Health
https://www.readbyqxmd.com/read/29349272/why-is-parental-lifespan-linked-to-children-s-chances-of-reaching-a-high-age-a-transgenerational-hypothesis
#10
Denny Vågerö, Vanda Aronsson, Bitte Modin
Purpose: Transgenerational determinants of longevity are poorly understood. We used data from four linked generations (G0, G1, G2 and G3) of the Uppsala Birth Cohort Multigeneration Study to address this issue. Methods: Mortality in G1 (N = 9565) was followed from 1961-2015 and analysed in relation to tertiles of their parents' (G0) age-at-death using Cox regression. Parental social class and marital status were adjusted for in the analyses, as was G1's birth order and adult social class...
April 2018: SSM—Population Health
https://www.readbyqxmd.com/read/29348906/an-ank1-ivs3-2a-c-mutation-causes-exon-4-skipping-in-two-patients-from-a-chinese-family-with-hereditary-spherocytosis
#11
Xiong Wang, Liyan Mao, Na Shen, Jing Peng, Yaowu Zhu, Qun Hu, Yanjun Lu
Hereditary spherocytosis (HS) is a congenital hemolytic anemia that affects the cell membrane of red blood cells and is characterized by the presence of spherical-shaped erythrocytes in the peripheral blood film. The clinical manifestation of HS ranges from asymptomatic to severe cases that require transfusion during early childhood. HS is caused by mutations in red blood cell membrane protein encoding genes, including ANK1, EPB42, SLC4A1, SPTA1, and SPTB. Mutations of the ANK1 gene account for 75% of all HS cases, and these particular mutations are typically inherited in an autosomal dominant manner...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29348834/activity-strengths-of-cortical-glutamatergic-and-gabaergic-neurons-are-correlated-with-transgenerational-inheritance-of-learning-ability
#12
Yulong Liu, Rongjing Ge, Xin Zhao, Rui Guo, Li Huang, Shidi Zhao, Sudong Guan, Wei Lu, Shan Cui, Shirlene Wang, Jin-Hui Wang
The capabilities of learning and memory in parents are presumably transmitted to their offsprings, in which genetic codes and epigenetic regulations are thought as molecular bases. As neural plasticity occurs during memory formation as cellular mechanism, we aim to examine the correlation of activity strengths at cortical glutamatergic and GABAergic neurons to the transgenerational inheritance of learning ability. In a mouse model of associative learning, paired whisker and odor stimulations led to odorant-induced whisker motion, whose onset appeared fast (high learning efficiency, HLE) or slow (low learning efficiency, LLE)...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29348693/variants-in-members-of-the-cadherin-catenin-complex-cdh1-and-ctnnd1-cause-blepharocheilodontic-syndrome
#13
Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Jeannette Hoogeboom, Raoul Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie Motter, Catherine Melver, Michael Cunningham, Anne Hing, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Antonio Richieri-Costa, Annette F Baas, Corstiaan C Breugem, Karen Duran, Maarten Massink, Patrick W B Derksen, Wilfred F J van IJcken, Leontine van Unen, Fernando Santos-Simarro, Pablo Lapunzina, Vera L Gil-da Silva Lopes, Elaine Lustosa-Mendes, Max Krall, Anne Slavotinek, Victor Martinez-Glez, Jeroen Bakkers, Koen L I van Gassen, Annelies de Klein, Marie-José H van den Boogaard, Gijs van Haaften
Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index patients, as was recently described in a different publication. CDH1 plays an essential role in epithelial cell adherence; CTNND1 binds to CDH1 and controls the stability of the complex...
January 18, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29348482/egfr-activation-triggers-cellular-hypertrophy-and-lysosomal-disease-in-naglu-depleted-cardiomyoblasts-mimicking-the-hallmarks-of-mucopolysaccharidosis-iiib
#14
Valeria De Pasquale, Antonio Pezone, Patrizia Sarogni, Alfonso Tramontano, Gabriele Giacomo Schiattarella, Vittorio Enrico Avvedimento, Simona Paladino, Luigi Michele Pavone
Mucopolysaccharidosis (MPS) IIIB is an inherited lysosomal storage disease caused by the deficiency of the enzyme α-N-acetylglucosaminidase (NAGLU) required for heparan sulfate (HS) degradation. The defective lysosomal clearance of undigested HS results in dysfunction of multiple tissues and organs. We recently demonstrated that the murine model of MPS IIIB develops cardiac disease, valvular abnormalities, and ultimately heart failure. To address the molecular mechanisms governing cardiac dysfunctions in MPS IIIB, we generated a model of the disease by silencing NAGLU gene expression in H9C2 rat cardiomyoblasts...
January 18, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29348326/symmetry-from-asymmetry-or-asymmetry-from-symmetry
#15
Elizabeth W Kahney, Rajesh Ranjan, Ryan J Gleason, Xin Chen
The processes of DNA replication and mitosis allow the genetic information of a cell to be copied and transferred reliably to its daughter cells. However, if DNA replication and cell division were always performed in a symmetric manner, the result would be a cluster of tumor cells instead of a multicellular organism. Therefore, gaining a complete understanding of any complex living organism depends on learning how cells become different while faithfully maintaining the same genetic material. It is well recognized that the distinct epigenetic information contained in each cell type defines its unique gene expression program...
January 18, 2018: Cold Spring Harbor Symposia on Quantitative Biology
https://www.readbyqxmd.com/read/29348176/contribution-of-the-trnaile-4317a-g-mutation-to-the-phenotypic-manifestation-of-the-deafness-associated-mitochondrial-12s-rrna-1555a-g-mutation
#16
Feilong Meng, Zheyun He, Xiaowen Tang, Jing Zheng, Xiaofen Jin, Yi Zhu, Xiaoyan Ren, Mi Zhou, Meng Wang, Shasha Gong, Jun Qin Mo, Qiang Shu, Min-Xin Guan
The 1555A>G mutation in mitochondrial 12S rRNA has been associated with aminoglycoside-induced and nonsyndromic deafness in many individuals worldwide. Mitochondrial genetic modifiers are proposed to influence the phenotypic expression of m.1555A>G mutation. Here, we report that a deafness-susceptibility allele (m.4317A>G) in the tRNAIle gene modulates the phenotype expression of m.1555A>G mutation. Strikingly, a large Han Chinese pedigree carrying both m.4317A>G and m.1555A>G mutations exhibited much higher penetrance of deafness than those carrying only m...
January 18, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29348038/children-with-fragile-x-syndrome-display-threat-specific-biases-toward-emotion
#17
Jessica L Burris, Ryan A Barry-Anwar, Riley N Sims, Randi J Hagerman, Flora Tassone, Susan M Rivera
BACKGROUND: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. FXS is caused by a silencing of the FMR1 gene that results in a loss or absence of the gene's protein product, fragile X mental retardation protein. The phenotype of FXS is consistently associated with heightened anxiety, although no previous study has investigated attentional bias toward threat, a hallmark of anxiety disorders, in individuals with FXS. METHODS: The current study employed a passive-viewing eye-tracking version of the dot probe task to investigate attentional biases toward emotional faces in young children with FXS (n = 47) and without FXS (n = 94)...
September 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/29347830/an-omic-biomarker-detection-algorithm-trivote-and-its-application-in-methylomic-biomarker-detection
#18
Cheng Xu, Jiamei Liu, Weifeng Yang, Yayun Shu, Zhipeng Wei, Weiwei Zheng, Xin Feng, Fengfeng Zhou
AIM: Transcriptomic and methylomic patterns represent two major OMIC data sources impacted by both inheritable genetic information and environmental factors, and have been widely used as disease diagnosis and prognosis biomarkers. MATERIALS & METHODS: Modern transcriptomic and methylomic profiling technologies detect the status of tens of thousands or even millions of probing residues in the human genome, and introduce a major computational challenge for the existing feature selection algorithms...
January 19, 2018: Epigenomics
https://www.readbyqxmd.com/read/29346494/novel-myopia-genes-and-pathways-identified-from-syndromic-forms-of-myopia
#19
D Ian Flitcroft, James Loughman, Christine F Wildsoet, Cathy Williams, Jeremy A Guggenheim
Purpose: To test the hypothesis that genes known to cause clinical syndromes featuring myopia also harbor polymorphisms contributing to nonsyndromic refractive errors. Methods: Clinical phenotypes and syndromes that have refractive errors as a recognized feature were identified using the Online Mendelian Inheritance in Man (OMIM) database. One hundred fifty-four unique causative genes were identified, of which 119 were specifically linked with myopia and 114 represented syndromic myopia (i...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29346445/transcriptome-analysis-of-skin-fibroblasts-with-dominant-negative-col3a1-mutations-provides-molecular-insights-into-the-etiopathology-of-vascular-ehlers-danlos-syndrome
#20
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures...
2018: PloS One
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