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https://www.readbyqxmd.com/read/29236290/an-eight-generation-family-with-cmtx-confirmation-of-the-pathogenicity-of-a-3-untranslated-region-mutation-in-gjb1-and-its-clinical-features
#1
Dong-Hui Chen, Maxwell Ma, Mena Scavina, Elizabeth Blue, John Wolff, Prasanthi Karna, Michael O Dorschner, Wendy H Raskind, Thomas D Bird
INTRODUCTION: Mutations in gap junction protein beta 1 (GJB1) on the X chromosome represent one of the most common causes of hereditary neuropathy. We assessed manifestations associated with a rare 3' untranslated region mutation (UTR) of GJB1 in a large family with X-linked Charcot-Marie-Tooth (CMTX). METHODS: Clinical, electrophysiological, and molecular genetic analyses of an eight-generation family with CMTX. RESULTS: There we 22 affected males and 19 symptomatic females, including an 83-year old woman followed for 40 years...
December 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29233820/adaptive-reprogramming-of-nk-cells-in-x-linked-lymphoproliferative-syndrome
#2
Stephen Opat, Anna Hearps, Kevin Thia, Agnes Yuen, Ben Rogers, Mkunde Chachage, Gregory Moore, Jake Shortt, Georgina Ryland, Piers Blombery, Anthony P Schwarer, Tahereh Noori, Joseph A Trapani, Anthony Jaworowski, Ilia Voskoboinik
No abstract text is available yet for this article.
December 12, 2017: Blood
https://www.readbyqxmd.com/read/29233487/genetic-counselling-patient-education-and-informed-decision-making-in-the-genomic-era
#3
REVIEW
Sylvia A Metcalfe
Genomic technologies are now being applied to reproductive genetic screening. Circulating cell-free DNA testing in pregnancy for fetal chromosomal abnormalities is becoming more widely used as a screening test, and expanded carrier screening for autosomal and X-linked recessive conditions for more than a hundred conditions is available to couples for testing before and during pregnancy. These are most typically available as a commercial test. The purpose of reproductive genetic screening is to facilitate autonomous reproductive choices...
December 7, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29233099/pronounced-strain-specific-chemosensory-receptor-gene-expression-in-the-mouse-vomeronasal-organ
#4
Kyle Duyck, Vasha DuTell, Limei Ma, Ariel Paulson, C Ron Yu
BACKGROUND: The chemosensory system plays an important role in orchestrating sexual behaviors in mammals. Pheromones trigger sexually dimorphic behaviors and different mouse strains exhibit differential responses to pheromone stimuli. It has been speculated that differential gene expression in the sensory organs that detect pheromones may underlie sexually-dimorphic and strain-specific responses to pheromone cues. RESULTS: We have performed transcriptome analyses of the mouse vomeronasal organ, a sensory organ recognizing pheromones and interspecies cues...
December 12, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29232005/x-linked-vacterl-h-caused-by-deletion-of-exon-3-in-fancb-a-case-report
#5
Norikazu Watanabe, Seiji Tsutsumi, Yuki Miyano, Hidenori Sato, Satoru Nagase
VACTERL is a congenital malformation characterized by vertebral defects (V), anal atresia (A), cardiac malformation (C), tracheoesophageal fistula (T), esophageal atresia (E), radial or renal dysplasia (R), and limb abnormalities (L) (McCauley et al. 2011). An association of VACTERL with ventriculomegaly or clinical hydrocephalus, known as VACTERL-H, was reported to have poor prognosis. Here, we report a case of VACTERL-H with an X-linked family history and a deleted exon 3 in FANCB.
December 12, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/29229810/disease-onset-in-x-linked-dystonia-parkinsonism-correlates-with-expansion-of-a-hexameric-repeat-within-an-sva-retrotransposon-in-taf1
#6
D Cristopher Bragg, Kotchaphorn Mangkalaphiban, Christine A Vaine, Nichita J Kulkarni, David Shin, Rachita Yadav, Jyotsna Dhakal, Mai-Linh Ton, Anne Cheng, Christopher T Russo, Mark Ang, Patrick Acuña, Criscely Go, Taylor N Franceour, Trisha Multhaupt-Buell, Naoto Ito, Ulrich Müller, William T Hendriks, Xandra O Breakefield, Nutan Sharma, Laurie J Ozelius
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease associated with an antisense insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1 This unique insertion coincides with six additional noncoding sequence changes in TAF1, the gene that encodes TATA-binding protein-associated factor-1, which appear to be inherited together as an identical haplotype in all reported cases. Here we examined the sequence of this SVA in XDP patients (n = 140) and detected polymorphic variation in the length of a hexanucleotide repeat domain, (CCCTCT)n The number of repeats in these cases ranged from 35 to 52 and showed a highly significant inverse correlation with age at disease onset...
December 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29228324/usp9x-controls-translation-efficiency-via-deubiquitination-of-eukaryotic-translation-initiation-factor-4a1
#7
Zengxia Li, Zhao Cheng, Chaerkady Raghothama, Zhaomeng Cui, Kaiyu Liu, Xiaojing Li, Chenxiao Jiang, Wei Jiang, Minjia Tan, Xiaohua Ni, Akhilesh Pandey, Jun O Liu, Yongjun Dang
Controlling translation initiation is an efficient way to regulate gene expression at the post-transcriptional level. However, current knowledge regarding regulatory proteins and their modes of controlling translation initiation is still limited. In this study, we employed tandem affinity purification and mass spectrometry to screen for unknown proteins associated with the translation initiation machinery. Ubiquitin specific peptidase 9, X-linked (USP9X), was identified as a novel binding partner, that interacts with the eukaryotic translation initiation factor 4B (eIF4B) in a mRNA-independent manner...
December 8, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29228267/the-effects-of-sex-biased-gene-expression-and-x-linkage-on-rates-of-sequence-evolution-in-drosophila
#8
José Luis Campos, Keira Johnston, Brian Charlesworth
A faster rate of adaptive evolution of X-linked genes compared with autosomal genes (the faster-X effect) can be caused by the fixation of recessive or partially recessive advantageous mutations. This effect should be largest for advantageous mutations that affect only male fitness, and least for mutations that affect only female fitness. We tested these predictions in Drosophila melanogaster by using coding and functionally significant non-coding sequences of genes with different levels of sex-biased expression...
December 8, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29228117/aneuploidy-an-important-model-system-to-understand-salient-aspects-of-functional-genomics
#9
Shriram N Rajpathak, Deepti D Deobagkar
Maintaining a balance in gene dosage and protein activity is essential to sustain normal cellular functions. Males and females have a wide range of genetic as well as epigenetic differences, where X-linked gene dosage is an essential regulatory factor. Basic understanding of gene dosage maintenance has emerged from the studies carried out using mouse models with FCG (four core genotype) and chromosomal aneuploidy as well as from mono-chromosomal hybrid cells. In mammals, aneuploidy often leads to embryonic lethality particularly in early development with major developmental and structural abnormalities...
December 8, 2017: Briefings in Functional Genomics
https://www.readbyqxmd.com/read/29225145/surprisingly-good-outcome-in-antenatal-diagnosis-of-severe-hydrocephalus-related-to-ccdc88c-deficiency
#10
Mathew Wallis, Alessandra Baumer, Wiam Smaili, Imane Cherkaoui Jaouad, Abdelaziz Sefiani, Erica Jacobson, Lucy Bowyer, David Mowat, Anita Rauch
Non-syndromic congenital hydrocephalus is aetiologically diverse and while a genetic cause is frequently suspected, it often cannot be confirmed. The most common genetic cause is L1CAM-related X-linked hydrocephalus and that explains only 5%-10% of all male cases. This underlines a current limitation in our understanding of the genetic burden of non-syndromic congenital hydrocephalus, especially for those cases with likely autosomal recessive inheritance. Additionally, the prognosis for most cases of severe congenital hydrocephalus is poor, with most of the surviving infants displaying significant intellectual impairment despite surgical intervention...
December 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29223406/chronic-granulomatous-disease-in-children-a-single-center-experience
#11
Alessandra Beghin, Marta Comini, Annarosa Soresina, Luisa Imberti, Michela Zucchi, Alessandro Plebani, Alessandro Montanelli, Fulvio Porta, Arnalda Lanfranchi
Chronic Granulomatous Disease (CGD) is caused by the failure of the phagocytes to kill pathogens. We carried out a retrospective analysis of cellular, molecular and clinical features of 14 young patients (mean age at the onset of symptoms and diagnosis: 10 and 25months, respectively), 7 with autosomal recessive and 7 X-linked form, referred to the Children's Hospital of Brescia between 1999 and 2016. Two new mutations were found, one localized in the CYBB and one in the NCF1 genes. Twelve patients were followed in our institution; the average length of their follow-up after diagnosis was 66months in X-linked patients and 126months in autosomal recessive inheritance...
December 6, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29222262/pediatric-leukemia-susceptibility-disorders-manifestations-and-management
#12
REVIEW
Lisa J McReynolds, Sharon A Savage
The clinical manifestations of inherited susceptibility to leukemia encompass a wide phenotypic range, including patients with certain congenital anomalies or early-onset myelodysplastic syndrome (MDS) and some with no obvious medical problems until they develop leukemia. Leukemia susceptibility syndromes occur as a result of autosomal dominant, autosomal recessive, or X-linked recessive inheritance, or de novo occurrence, of germline pathogenic variants in DNA repair, ribosome biogenesis, telomere biology, hematopoietic transcription factors, tumor suppressors, and other critical cellular processes...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222110/a-ck1-fret-biosensor-reveals-that-ddx3x-is-an-essential-activator-of-ck1%C3%AF%C2%B5
#13
Christine Dolde, Joachim Bischof, Simon Grüter, Anna Montada, Jakob Halekotte, Christian Peifer, Hubert Kalbacher, Ulrich Baumann, Uwe Knippschild, Beat Suter
Casein kinase 1 (CK1) plays central roles in various signal transduction pathways and performs many cellular activities. For a long time CK1 was thought to act independent of modulatory subunits and in a constitutive manner. Recently, DEAD box RNA helicases, in particular DEAD box RNA helicase 3 X-linked (DDX3X), were found to stimulate CK1 activity in vitro In order to observe CK1 activity in living cells and to study its interaction with DDX3X, we developed a CK1-specific FRET biosensor. This tool revealed that DDX3X is indeed required for full CK1 activity in living cells...
December 8, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/29222038/hdac6-inhibition-induces-glioma-stem-cells-differentiation-and-enhances-cellular-radiation-sensitivity-through-the-shh-gli1-signaling-pathway
#14
Wei Yang, Yingying Liu, Ruoling Gao, Hongquan Yu, Ting Sun
The existence of small numbers of stem-like cells, called glioma stem cells (GSCs), in human glioblastoma multiforme (GBM) is responsible for recurrence due to resistance to radiotherapy and chemotherapy. Inhibition of histone deacetylase 6 (HDAC6) enhanced radiosensitivity of cancer cells. However, the effect of inhibiting HDAC6 on stemness and radioresistance of GSCs and its molecular mechanism are largely unknown. In the present study, we found that HDAC6 was upregulated in GSCs comparing to non-stem tumor cells...
December 5, 2017: Cancer Letters
https://www.readbyqxmd.com/read/29221164/inhibition-of-x-linked-inhibitor-of-apoptosis-protein-suppresses-tumorigenesis-and-enhances-chemosensitivity-in-anaplastic-thyroid-carcinoma
#15
Yao Liu, Bing Zhang, Tiefeng Shi, Huadong Qin
Anaplastic thyroid carcinoma (ATC) is one of the most lethal carcinoma with a poor prognosis; however, molecular mechanisms underlying the aggressiveness of ATC remain unclear. Our goal was to examine the expression of X-linked inhibitor of apoptosis protein (XIAP) in ATC, as well as its role in ATC tumorigenesis. This is a retrospective study of ATC patients from the Second Affiliated Hospital of Harbin Medical University during June 2003 to October 2013. The expression of XIAP in tumor specimens of ATC patients was examined by immunohistochemical staining...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29218432/the-2016-revision-of-the-who-classification-of-central-nervous-system-tumours-retrospective-application-to-a-cohort-of-diffuse-gliomas
#16
Te Whiti Rogers, Gurvinder Toor, Katharine Drummond, Craig Love, Kathryn Field, Rebecca Asher, Alpha Tsui, Michael Buckland, Michael Gonzales
The classification of central nervous system tumours has more recently been shaped by a focus on molecular pathology rather than histopathology. We re-classified 82 glial tumours according to the molecular-genetic criteria of the 2016 revision of the World Health Organization (WHO) Classification of Tumours of the Central Nervous System. Initial diagnoses and grading were based on the morphological criteria of the 2007 WHO scheme. Because of the impression of an oligodendroglial component on initial histological assessment, each tumour was tested for co-deletion of chromosomes 1p and 19q and mutations of isocitrate dehydrogenase (IDH-1 and 2) genes...
December 7, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29218130/neonatal-stridor-in-familial-congenital-laryngeal-paralysis-plott-syndrome-%C3%A2-a-case-study-in-an-omani-family
#17
Emad Sadek Shatla, Gowda Parameshwara Prashanth, Rodney Aguiar, Ganji Shivalingam, Adeel Ahmed Al Haq
Stridor presenting soon after birth due to bilateral abductor vocal cord paralysis (VCP) is rare. We report a family with bilateral VCP affecting four male members in two generations and hence suggesting X-linked recessive inheritance. Severe stridor in the neonatal period requires meticulous airway evaluation, and tracheostomy in 35-70% cases. The current trend is towards conservative management and tracheostomy is avoided unless respiratory distress is severe or life-threatening. Neonatal VCP can be an isolated finding, or it can be familial with or without syndromic features...
November 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/29216191/transcription-factors-coregulators-and-epigenetic-marks-are-linearly-correlated-and-highly-redundant
#18
Tobias Ahsendorf, Franz-Josef Müller, Ved Topkar, Jeremy Gunawardena, Roland Eils
The DNA microstates that regulate transcription include sequence-specific transcription factors (TFs), coregulatory complexes, nucleosomes, histone modifications, DNA methylation, and parts of the three-dimensional architecture of genomes, which could create an enormous combinatorial complexity across the genome. However, many proteins and epigenetic marks are known to colocalize, suggesting that the information content encoded in these marks can be compressed. It has so far proved difficult to understand this compression in a systematic and quantitative manner...
2017: PloS One
https://www.readbyqxmd.com/read/29215267/new-structural-insights-into-formation-of-the-key-actin-regulating-wip-wasp-complex-determined-by-nmr-and-molecular-imaging
#19
Adi Halle-Bikovski, Sophia Fried, Eva Rozentur-Shkop, Guy Biber, Hadassa Shaked, Noah Joseph, Mira Barda-Saad, Jordan H Chill
Wiskott-Aldrich syndrome protein (WASp) is exclusively expressed in hematopoietic cells and responsible for actin-dependent processes, including cellular activation, migration, and invasiveness. The C-terminal domain of WASp-Interacting Protein (WIP) binds to WASp and regulates its activity by shielding it from degradation in a phosphorylation dependent manner as we previously demonstrated. Mutations in the WAS-encoding gene lead to the primary immunodeficiencies Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT)...
December 7, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/29215066/pharmacological-inhibition-of-rev-erb-stimulates-differentiation-inhibits-turnover-and-reduces-fibrosis-in-dystrophic-muscle
#20
Ryan D Welch, Cyrielle Billon, Aurore-Cecile Valfort, Thomas P Burris, Colin A Flaveny
Duchenne muscular dystrophy (DMD) is a debilitating X-linked disorder that is fatal. DMD patients lack the expression of the structural protein dystrophin caused by mutations within the DMD gene. The absence of functional dystrophin protein results in excessive damage from normal muscle use due to the compromised structural integrity of the dystrophin associated glycoprotein complex. As a result, DMD patients exhibit ongoing cycles of muscle destruction and regeneration that promote inflammation, fibrosis, mitochondrial dysfunction, satellite cell (SC) exhaustion and loss of skeletal and cardiac muscle function...
December 7, 2017: Scientific Reports
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