keyword
MENU ▼
Read by QxMD icon Read
search

Inherited

keyword
https://www.readbyqxmd.com/read/29792890/the-visual-cortex-and-visual-cognition-in-huntington-s-disease-an-overview-of-current-literature
#1
REVIEW
Emma M Coppen, Jeroen van der Grond, Ellen P Hart, Egbert A J F Lakke, Raymund A C Roos
The processing of visual stimuli from retina to higher cortical areas has been extensively studied in the human brain. In Huntington's disease (HD), an inherited neurodegenerative disorder, it is suggested that visual processing deficits are present in addition to more characteristic signs such as motor disturbances, cognitive dysfunction, and behavioral changes. Visual deficits are clinically important because they influence overall cognitive performance and have implications for daily functioning. The aim of this review is to summarize current literature on clinical visual deficits, visual cognitive impairment, and underlying visual cortical changes in HD patients...
May 21, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29792684/label-free-optical-marker-for-rbc-phenotyping-of-inherited-anaemias
#2
Martina Mugnano, Pasquale Memmolo, Lisa Miccio, Francesco Merola, Vittorio Bianco, Alessia Bramanti, Antonella Gambale, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Pietro Ferraro
The gold standard methods for anaemia diagnosis are the complete blood count and the peripheral smear observation. However, they do not allow for a complete differential diagnosis, which requires biochemical assays, thus being label-dependent techniques. On the other hand, recent studies focus on label-free quantitative phase imaging (QPI) of blood samples to investigate blood diseases by using video-based morphological methods. However, when sick cells are very similar to healthy ones in terms of morphometric features identification of a blood disease becomes challenging even by morphometric as well as QPI...
May 24, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29791958/imaging-patterns-of-muscle-atrophy
#3
Marc-André Weber, Marcel Wolf, Mike P Wattjes
The role of muscle imaging in the diagnosis of inherited and acquired muscle diseases has gained clinical relevance. In particular, magnetic resonance imaging (MRI) is increasingly being used for diagnostic purposes, especially with its capability of whole-body musculature assessment. The assessment and quantification of muscle involvement in muscle diseases can be of diagnostic value by identifying a certain involvement pattern and thus narrowing the differential diagnosis and supporting the clinical diagnosis...
July 2018: Seminars in Musculoskeletal Radiology
https://www.readbyqxmd.com/read/29791857/a-cytoplasmic-argonaute-protein-promotes-the-inheritance-of-rnai
#4
Fei Xu, Xuezhu Feng, Xiangyang Chen, Chenchun Weng, Qi Yan, Ting Xu, Minjie Hong, Shouhong Guang
RNAi-elicited gene silencing is heritable and can persist for multiple generations after its initial induction in C. elegans. However, the mechanism by which parental-acquired trait-specific information from RNAi is inherited by the progenies is not fully understood. Here, we identified a cytoplasmic Argonaute protein, WAGO-4, necessary for the inheritance of RNAi. WAGO-4 exhibits asymmetrical translocation to the germline during early embryogenesis, accumulates at the perinuclear foci in the germline, and is required for the inheritance of exogenous RNAi targeting both germline- and soma-expressed genes...
May 22, 2018: Cell Reports
https://www.readbyqxmd.com/read/29791850/the-memory-of-environmental-chemical-exposure-in-c-elegans-is-dependent-on-the-jumonji-demethylases-jmjd-2-and-jmjd-3-utx-1
#5
Jessica Camacho, Lisa Truong, Zeyneb Kurt, Yen-Wei Chen, Marco Morselli, Gerardo Gutierrez, Matteo Pellegrini, Xia Yang, Patrick Allard
How artificial environmental cues are biologically integrated and transgenerationally inherited is still poorly understood. Here, we investigate the mechanisms of inheritance of reproductive outcomes elicited by the model environmental chemical Bisphenol A in C. elegans. We show that Bisphenol A (BPA) exposure causes the derepression of an epigenomically silenced transgene in the germline for 5 generations, regardless of ancestral response. Chromatin immunoprecipitation sequencing (ChIP-seq), histone modification quantitation, and immunofluorescence assays revealed that this effect is associated with a reduction of the repressive marks H3K9me3 and H3K27me3 in whole worms and in germline nuclei in the F3, as well as with reproductive dysfunctions, including germline apoptosis and embryonic lethality...
May 22, 2018: Cell Reports
https://www.readbyqxmd.com/read/29791843/cell-cycle-regulation-of-dynamic-chromosome-association-of-the-condensin-complex
#6
Rahul Thadani, Julia Kamenz, Sebastian Heeger, Sofía Muñoz, Frank Uhlmann
Eukaryotic cells inherit their genomes in the form of chromosomes, which are formed from the compaction of interphase chromatin by the condensin complex. Condensin is a member of the structural maintenance of chromosomes (SMC) family of ATPases, large ring-shaped protein assemblies that entrap DNA to establish chromosomal interactions. Here, we use the budding yeast Saccharomyces cerevisiae to dissect the role of the condensin ATPase and its relationship with cell-cycle-regulated chromosome binding dynamics...
May 22, 2018: Cell Reports
https://www.readbyqxmd.com/read/29791568/assessing-the-association-between-hypoxia-during-craniofacial-development-and-oral-clefts
#7
Erika Calvano Küchler, Lea Assed da Silva, Paulo Nelson-Filho, Ticiana M Sabóia, Angela M Rentschler, José Mauro Granjeiro, Driely Oliveira, Patricia N Tannure, Raquel Assed da Silva, Leonardo Santos Antunes, Michael Tsang, Alexandre R Vieira
Objectives To evaluate the association between hypoxia during embryo development and oral clefts in an animal model, and to evaluate the association between polymorphisms in the HIF-1A gene with oral clefts in human families. Material and Methods The study with the animal model used zebrafish embryos at 8 hours post-fertilization submitted to 30% and 50% hypoxia for 24 hours. At 5 days post-fertilization, the larvae were fixed. The cartilage structures were stained to evaluate craniofacial phenotypes. The family-based association study included 148 Brazilian nuclear families with oral clefts...
2018: Journal of Applied Oral Science: Revista FOB
https://www.readbyqxmd.com/read/29791171/-diagnosis-of-mody-brief-overview-for-clinical-practice
#8
Jana Urbanová, Ludmila Brunerová, Jan Brož
Maturity Onset Diabetes of the Young (MODY) comprises inherited forms of diabetes mellitus caused by the mutations in the genes involved in the development, differentiation and function of beta-cells. The majority of patients with MODY remains misdiagnosed and erroneously classified as type 1 or type 2 diabetic patients. Correct MODY diagnosis is, however, essential since it enables individualization of treatment, assessment of the prognosis and identification of diabetes among patient´s relatives. Clinical presentation of MODY is highly variable and it could resemble other types of diabetes, thus identification of MODY patients might be difficult...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29790873/diversity-of-genetic-events-associated-with-mlh1-promoter-methylation-in-lynch-syndrome-families-with-heritable-constitutional-epimutation
#9
Julie Leclerc, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Emilie Ait Yahya, Stéphanie Baert-Desurmont, Nelly Burnichon, Myriam Bronner, Odile Cabaret, Sophie Lejeune, Rosine Guimbaud, Gilles Morin, Jacques Mauillon, Philippe Jonveaux, Pierre Laurent-Puig, Thierry Frébourg, Nicole Porchet, Marie-Pierre Buisine
PurposeConstitutional epimutations are an alternative to genetic mutations in the etiology of genetic diseases. Some of these epimutations, termed secondary, correspond to the epigenetic effects of cis-acting genetic defects transmitted to the offspring following a Mendelian inheritance pattern. In Lynch syndrome, a few families with such apparently heritable MLH1 epimutations have been reported so far.MethodsWe designed a long-range polymerase chain reaction next-generation sequencing strategy to screen MLH1 entire gene and applied it to 4 French families with heritable epimutations and 10 additional patients with no proven transmission of their epimutations...
April 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29790453/thyroid-hypoplasia-in-congenital-hypothyroidism-associated-with-thyroid-peroxidase-mutations
#10
Athanasia Stoupa, Rim Chaabane, Manelle Guériouz, Catherine Raynaud-Ravni, Patrick Nitschke, Christine Bole-Feyset, Mouna Mnif, Leila Ammar Keskes, Mongia Hachicha, Neila Belguith, Michel Polak, Aurore Carré
CONTEXT: Primary congenital hypothyroidism (CH) affects about 1:3000 newborns worldwide and is mainly caused by defects in thyroid gland development (thyroid dysgenesis, TD) or hormone synthesis. A genetic cause is identified in less than 10% of TD patients. Our aim was to identify novel candidate genes in patients with TD using next-generation sequencing tools. PATIENT FINDINGS: We used whole exome sequencing (WES) to study two families, a consanguineous Tunisian family (one child with severe thyroid hypoplasia) and a French family (two newborn siblings, with a thyroid in situ that was not enlarged on ultrasound at diagnosis)...
May 23, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29790249/the-mechanisms-of-epigenetic-inheritance-how-diverse-are-they
#11
Oleg N Tikhodeyev
Although epigenetic inheritance (EI) is a rapidly growing field of modern biology, it still has no clear place in fundamental genetic concepts which are traditionally based on the hereditary role of DNA. Moreover, not all mechanisms of EI attract the same attention, with most studies focused on DNA methylation, histone modification, RNA interference and amyloid prionization, but relatively few considering other mechanisms such as stable inhibition of plastid translation. Herein, we discuss all known and some hypothetical mechanisms that can underlie the stable inheritance of phenotypically distinct hereditary factors that lack differences in DNA sequence...
May 22, 2018: Biological Reviews of the Cambridge Philosophical Society
https://www.readbyqxmd.com/read/29789446/validation-of-ion-torrent-tm-inherited-disease-panel-with-the-pgm-tm-sequencing-platform-for-rapid-and-comprehensive-mutation-detection
#12
Abeer E Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R Al-Mubarak, Nada A Al Tassan
Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next generation sequencing (NGS) platforms, such as target panel-based sequencing, has enabled comprehensive, quick, and precise interrogation of many genetic variations. As a result, these technologies have become a valuable tool for gene discovery and for clinical diagnostics. The AmpliSeq Inherited Disease Panel (IDP) consists of 328 genes underlying more than 700 inherited diseases...
May 22, 2018: Genes
https://www.readbyqxmd.com/read/29788954/pathogenesis-imaging-and-clinical-characteristics-of-cf-and-non-cf-bronchiectasis
#13
REVIEW
Jürgen Schäfer, Matthias Griese, Ravishankar Chandrasekaran, Sanjay H Chotirmall, Dominik Hartl
Bronchiectasis is a common feature of severe inherited and acquired pulmonary disease conditions. Among inherited diseases, cystic fibrosis (CF) is the major disorder associated with bronchiectasis, while acquired conditions frequently featuring bronchiectasis include post-infective bronchiectasis and chronic obstructive pulmonary disease (COPD). Mechanistically, bronchiectasis is driven by a complex interplay of inflammation and infection with neutrophilic inflammation playing a predominant role. The clinical characterization and management of bronchiectasis should involve a precise diagnostic workup, tailored therapeutic strategies and pulmonary imaging that has become an essential tool for the diagnosis and follow-up of bronchiectasis...
May 22, 2018: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/29788924/exploration-of-the-association-between-foxe1-gene-polymorphism-and-differentiated-thyroid-cancer-a-meta-analysis
#14
Yong-Hui Chen, Ying-Qiang Zhang
BACKGROUND: Several association analyses and linkage researches indicated that inherited genetic variations effectively influence differentiated thyroid carcinogenesis. METHODS: The results from 15 published studies on differentiated thyroid carcinoma (DTC) were combined. The genetic model included rs965513, rs944289 and rs1867277. Meta-analyses were performed and cochran's χ2 based Q-statistic and I2 test were performed to assess heterogeneity using STATA software...
May 22, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29788905/genomic-prediction-of-the-polled-and-horned-phenotypes-in-merino-sheep
#15
Naomi Duijvesteijn, Sunduimijid Bolormaa, Hans D Daetwyler, Julius H J van der Werf
BACKGROUND: In horned sheep breeds, breeding for polledness has been of interest for decades. The objective of this study was to improve prediction of the horned and polled phenotypes using horn scores classified as polled, scurs, knobs or horns. Derived phenotypes polled/non-polled (P/NP) and horned/non-horned (H/NH) were used to test four different strategies for prediction in 4001 purebred Merino sheep. These strategies include the use of single 'single nucleotide polymorphism' (SNP) genotypes, multiple-SNP haplotypes, genome-wide and chromosome-wide genomic best linear unbiased prediction and information from imputed sequence variants from the region including the RXFP2 gene...
May 22, 2018: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/29788325/ancestral-tcdd-exposure-induces-multigenerational-histologic-and-transcriptomic-alterations-in-gonads-of-male-zebrafish
#16
Danielle N Meyer, Bridget B Baker, Tracie R Baker
TCDD (2,3,7,8-tetrachlorodibenzo-p-dioxin), the classic AhR (aryl hydrocarbon receptor) agonist, is a potent environmental toxicant and endocrine-disrupting chemical (EDC) with known developmental toxicity in humans, rodents, and fish. Early life exposure to some EDCs, including TCDD, is linked to the occurrence of adult-onset and multigenerational disease. Previous work exposing juvenile F0 zebrafish (Danio rerio) to 50 ppt (parts per trillion) TCDD during reproductive development has shown male-mediated transgenerational decreases in fertility (F0-F2) and histological and transcriptomic alterations in F0 testes...
May 21, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29788315/inferring-and-modeling-inheritance-of-differentially-methylated-changes-across-multiple-generations
#17
Pascal Belleau, Astrid Deschênes, Marie-Pier Scott-Boyer, Romain Lambrot, Mathieu Dalvai, Sarah Kimmins, Janice Bailey, Arnaud Droit
No abstract text is available yet for this article.
May 21, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29788201/genetic-variants-in-autism-related-cntnap2-impair-axonal-growth-of-cortical-neurons
#18
Giorgia Canali, Marta Garcia, Bruno Hivert, Delphine Pinatel, Aline Goullancourt, Ksenia Oguievetskaia, Margaux Saint-Martin, Jean-Antoine Girault, Catherine Faivre-Sarrailh, Laurence Goutebroze
The CNTNAP2 gene, coding for the cell adhesion glycoprotein Caspr2, is thought to be one of the major susceptibility genes for autism spectrum disorder (ASD). A large number of rare heterozygous missense CNTNAP2 variants have been identified in ASD patients. However, most of them are inherited from an unaffected parent, questioning their clinical significance. In the present study, we evaluate their impact on neurodevelopmental functions of Caspr2 in a heterozygous genetic background. Performing cortical neuron cultures from mouse embryos, we demonstrate that Caspr2 plays a dose-dependent role in axon growth in vitro...
June 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29788070/vt-1598-inhibits-the-in-vitro-growth-of-mucosal-candida-strains-and-protects-against-fluconazole-susceptible-and-resistant-oral-candidiasis-in-il-17-signalling-deficient-mice
#19
Timothy J Break, Jigar V Desai, Kelley R Healey, Mukil Natarajan, Elise M N Ferre, Christina Henderson, Adrian Zelazny, Ulrich Siebenlist, Christopher M Yates, Oren J Cohen, Robert J Schotzinger, David S Perlin, Edward P Garvey, Michail S Lionakis
Background: Chronic mucocutaneous candidiasis (CMC) treatment often induces drug resistance, posing long-term challenges. A novel broad-spectrum fungal CYP51 inhibitor, VT-1598, specifically targets fungal CYP51, but not human CYP enzymes. Objectives: To determine the efficacy of VT-1598 in the treatment of oral Candida infection caused by fluconazole-susceptible and -resistant clinical isolates. Methods: The MICs of VT-1598 and fluconazole for 28 Candida isolates recovered from patients with inherited CMC were determined using CLSI M27-A3 and M27-S4 guidelines...
May 16, 2018: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29788020/genomic-deletion-involving-the-immp2l-gene-in-two-cases-of-autism-spectrum-disorder
#20
Federica Baldan, Chiara Gnan, Alessandra Franzoni, Lucia Ferino, Lorenzo Allegri, Nadia Passon, Giuseppe Damante
Mutations/deletions of the IMMP2L gene have been associated with different cognitive/behavioral disturbances, including autism spectrum disorders (ASD). The penetrance of these defects is not complete since they often are inherited from a healthy parent. Using array-CGH in a cohort of 37 ASD patients, we found 2 subjects harboring a deletion inside the IMMP2L gene. In both cases, the IMMP2L gene deletion was inherited: from a healthy mother in one case and from a dyslectic father in the other. In the latter family, the IMMP2L deletion was also detected in the patient's brother, who showed delayed language development...
May 23, 2018: Cytogenetic and Genome Research
keyword
keyword
2035
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"