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https://www.readbyqxmd.com/read/29683207/the-wmn1-enhancer-region-in-intron-1-is-required-for-expression-of-human-plp1
#1
Hamdan Hamdan, Pankaj Patyal, Neriman T Kockara, Patricia A Wight
The myelin proteolipid protein gene (PLP1) encodes the most abundant protein present in myelin from the central nervous system (CNS). Its expression must be tightly controlled as evidenced by mutations that alter PLP1 dosage; both overexpression (elevated PLP1 copy number) and lack thereof (PLP1 deletion) result in X-linked genetic disorders in man. However, not much is known about the mechanisms that govern expression of the human gene. To address this, transgenic mice were generated which utilize human PLP1 (hPLP1) sequences (proximal 6...
April 23, 2018: Glia
https://www.readbyqxmd.com/read/29681091/expanding-the-molecular-basis-and-phenotypic-spectrum-of-zdhhc9-associated-x-linked-intellectual-disability
#2
Schaida Schirwani, Emma Wakeling, Kath Smith, Meena Balasubramanian
Pathogenic variants in Zinc Finger DHHC-Type Containing 9 (ZDHHC9) gene have been identified as the cause of X-linked intellectual disability (XLID) in a small number of families. There are a total of 11 reported pathogenic variants in ZDHHC9 in the literature. The majority of reported variants are familial point mutations. There is one report of XLID associated with a de novo mutation in ZDHHC9, and one family with intragenic deletion within ZDHHC9 detected by array CGH. Although initial reports of families with ZDHHC9 pathogenic variants suggested a nonsyndromic XLID, more recent reports suggest a syndromic phenotype with facial dysmorphism...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29680633/multiplex-tandem-mass-spectrometry-assay-for-newborn-screening-of-x-linked-adrenoleukodystrophy-biotinidase-deficiency-and-galactosemia-with-flexibility-to-assay-other-enzyme-assays-and-biomarkers
#3
Xinying Hong, Arun Babu Kumar, C Ronald Scott, Michael H Gelb
All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP).We sought to consolidate these tests by combining them into a single multiplex tandem mass spectrometry assay as well as to improve the current protocol for newborn screening of galactosemia.A 3 mm punch of a dried blood spot (DBS) was extracted with organic solvent for analysis of the C26:0-lysophosphatidylcholine biomarker for X-ALD...
March 29, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29679388/somatic-slc35a2-variants-in-the-brain-are-associated-with-intractable-neocortical-epilepsy
#4
Melodie R Winawer, Nicole G Griffin, Jorge Samanamud, Evan H Baugh, Dinesh Rathakrishnan, Senthilmurugan Ramalingam, David Zagzag, Catherine A Schevon, Patricia Dugan, Manu Hegde, Sameer A Sheth, Guy M McKhann, Werner K Doyle, Gerald A Grant, Brenda E Porter, Mohamad A Mikati, Carrie R Muh, Colin D Malone, Ann Marie R Bergin, Jurriaan M Peters, Danielle K McBrian, Alison M Pack, Cigdem I Akman, Christopher M LaCoursiere, Katherine M Keever, Joseph R Madsen, Edward Yang, Hart G W Lidov, Catherine Shain, Andrew S Allen, Peter Canoll, Peter B Crino, Annapurna H Poduri, Erin L Heinzen
OBJECTIVE Somatic variants are a recognized cause of epilepsy-associated focal malformations of cortical development (MCD). We hypothesized that somatic variants may underlie a wider range of focal epilepsy, including non-lesional focal epilepsy (NLFE). Through genetic analysis of brain tissue, we evaluated the role of somatic variation in focal epilepsy with and without MCD. METHODS We identified somatic variants through high-depth exome and ultra-high-depth candidate gene sequencing of DNA from epilepsy surgery specimens and leukocytes from 18 individuals with NLFE and 38 with focal MCD...
April 20, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29679282/burosumab-first-global-approval
#5
Yvette N Lamb
Burosumab (Crysvita® ; Kyowa Hakko Kirin Co., Ltd. and Ultragenyx Pharmaceutical Inc.) is a fully human monoclonal antibody directed at fibroblast growth factor 23 (FGF23). Excessive FGF23 production has been implicated in various hypophosphataemic diseases. Inhibition of FGF23 by burosumab results in increased renal phosphate reabsorption and increased serum levels of phosphorus and active vitamin D. In February 2018, the EMA granted subcutaneous burosumab conditional marketing authorization for the treatment of X-linked hypophosphataemia (XLH) with radiographic evidence of bone disease in children one year of age and older and adolescents with growing skeletons...
April 20, 2018: Drugs
https://www.readbyqxmd.com/read/29678905/phosphorylation-of-xiap-at-threonine-180-controls-its-activity-in-wnt-signaling
#6
Victoria H Ng, Brian I Hang, Leah M Sawyer, Leif R Neitzel, Emily E Crispi, Kristie L Rose, Tessa M Popay, Alison Zhong, Laura A Lee, William P Tansey, Stacey Huppert, Ethan Lee
X-linked Inhibitor of Apoptosis (XIAP) plays an important role in preventing apoptotic cell death. XIAP has been shown to participate in signaling pathways, including Wnt signaling. XIAP regulates Wnt signaling by promoting the monoubiquitination of the co-repressor Groucho/TLE, decreasing its affinity for TCF/Lef and allowing assembly of transcriptionally active β-catenin-TCF/Lef complexes. We now demonstrate that XIAP is phosphorylated by GSK3 at threonine 180 and that an alanine mutant (XIAPT180A ) exhibits decreased Wnt activity compared to wild-type XIAP in cultured human cells and in Xenopus embryos...
April 20, 2018: Journal of Cell Science
https://www.readbyqxmd.com/read/29678281/an-orphan-g-protein-coupled-receptor-causes-human-gigantism-and-or-acromegaly-molecular-biology-and-clinical-correlations
#7
REVIEW
Giampaolo Trivellin, Laura C Hernández-Ramírez, Jeremy Swan, Constantine A Stratakis
X-linked acrogigantism (X-LAG) is a recently described form of familial or sporadic pituitary gigantism characterized by very early onset GH and IGF-1 excess, accelerated growth velocity, gigantism and/or acromegaloid features. Germline or somatic microduplications of the Xq26.3 chromosomal region, invariably involving the GPR101 gene, constitute the genetic defect leading to X-LAG. GPR101 encodes a class A G protein-coupled receptor that activates the 3',5'-cyclic adenosine monophosphate signaling pathway...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678278/periventricular-small-cystic-lesions-in-a-patient-with-coffin-lowry-syndrome-who-exhibited-a-novel-mutation-in-the-rps6ka3-gene
#8
Yohane Miyata, Ken Saida, Satoko Kumada, Noriko Miyake, Hideaki Mashimo, Yuya Nishida, Ikuko Shirai, Eiji Kurihara, Yasuhiro Nakata, Naomichi Matsumoto
BACKGROUND: Coffin-Lowry syndrome is a rare X-linked disease, caused by loss-of-function mutations in the RPS6KA3 gene. Patients exhibit severe intellectual disability with characteristic dysmorphism. As there are no specific laboratory findings to support the diagnosis of Coffin-Lowry syndrome, it may be difficult to diagnose-especially in young children, where the characteristic craniofacial features are less discernible. CASE: Here we report on a 2-year-old boy with Coffin-Lowry syndrome with a novel missense mutation in the RPS6KA3 gene...
April 17, 2018: Brain & Development
https://www.readbyqxmd.com/read/29677005/maged2-a-novel-form-of-antenatal-bartter-s-syndrome
#9
Martin Kömhoff, Kamel Laghmani
PURPOSE OF REVIEW: Antenatal Bartter's syndrome (aBS) is the most severe form of Bartter's syndrome, requiring close follow-up, in particular during the neonatal period, primarily because of prematurity. The recent identification of a novel and very severe form of aBS merits an update on this topic. RECENT FINDING: Despite the identification of several genes involved in Bartter's syndrome, about 20% of patients clinically diagnosed with aBS remained without genetic explanation for decades...
April 18, 2018: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/29676235/current-and-promising-therapies-in-autosomal-recessive-ataxias
#10
Vincent Picher-Martel, Nicolas Dupre
BACKGROUND & OBJECTIVE: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Many years have passed since the description of Friedreich's ataxia, the most common autosomal recessive ataxia, and mutations in many other genes have now been described...
April 18, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29675923/latent-therapeutic-demand-model-for-the-immunoglobulin-replacement-therapy-of-primary-immune-deficiency-disorders-in-the-usa
#11
J S Stonebraker, J Hajjar, J S Orange
BACKGROUND AND OBJECTIVES: Our research aim is to model latent therapeutic demand (LTD) for the immunoglobulin replacement therapy (IgGRT) of primary immune deficiency disorders (PIDDs) in the USA. Given the high level of variability of IgGRT use and major differences among American and European practices in the management of patients with PIDDs, we develop a USA-specific LTD model for common variable immune deficiency (CVID), hyper IGM syndrome, severe combined immune deficiency, Wiskott-Aldrich syndrome and X-linked agammaglobulinemia (XLA)...
April 20, 2018: Vox Sanguinis
https://www.readbyqxmd.com/read/29675083/neuroimaging-in-menkes-disease
#12
Molla I Ahmed, Nahin Hussain
Menkes disease (MD) is a rare infantile onset neurodegenerative disorder due to mutations in the X linked ATP7A gene. These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is characteristic of this condition. A number of neuro-radiological findings have been reported in this condition. We report the spectrum of neuro-radiological findings in three affected boys being treated at our centre. We suggest that magnetic resonance imaging (MRI) and, in particular magnetic resonance angiography (MRA) when taken in the context of the clinical presentation may be helpful in making an early diagnosis of this devastating condition...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29674318/nicotiana-benthamiana-%C3%AE-galactosidase-a1-1-can-functionally-complement-human-%C3%AE-galactosidase-a-deficiency-associated-with-fabry-disease
#13
Kassiani Kytidou, Jules Beekwilder, Marta Artola, Eline van Meel, Ruud H P Wilbers, Geri F Moolenaar, Nora Goosen, Maria J Ferraz, Rebecca Katzy, Patrick Voskamp, Bogdan I Florea, Cornelis H Hokke, Herman S Overkleeft, Arjen Schots, Dirk Bosch, Navraj Pannu, Johannes M F G Aerts
α-Galactosidases (EC 3.2.1.22) are retaining glycosidases that cleave terminal α-linked galactose residues from glycoconjugate substrates. α-Galactosidases take part in the turnover of cell wall-associated galactomannans in plants and in the lysosomal degradation of glycosphingolipids in animals. Deficiency of human α-galactosidase A (α-Gal A) causes Fabry disease (FD), a heritable, X-linked lysosomal storage disorder, characterized by accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3)...
April 19, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29674172/generation-of-induced-pluripotent-stem-cells-from-a-patient-with-x-linked-juvenile-retinoschisis
#14
Chi-Hsien Peng, Kang-Chieh Huang, Huai-En Lu, Shih-Han Syu, Aliaksandr A Yarmishyn, Jyh-Feng Lu, Waradee Buddhakosai, Tai-Chi Lin, Chih-Chien Hsu, De-Kuang Hwang, Chia-Ning Shen, Shih-Jen Chen, Shih-Hwa Chiou
X-linked juvenile retinoschisis (XLRS) is a hereditary retinal dystrophy manifested as splitting of anatomical layers of retina. In this report, we generated a patient-specific induced pluripotent stem cell (iPSC) line, TVGH-iPSC-013-05, from the peripheral blood mononuclear cells of a male patient with XLRS by using the Sendai-virus delivery system. We believe that XLRS patient-specific iPSCs provide a powerful in vitro model for evaluating the pathological phenotypes of the disease.
April 11, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29672931/x-linked-ichthyosis-clinical-and-molecular-findings-in-35-italian-patients
#15
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Viola Alesi, Giovanna Zambruno, Antonio Novelli, May El Hachem
Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next generation sequencing analysis...
April 19, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29672516/use-of-primaquine-and-glucose-6-phosphate-dehydrogenase-deficiency-testing-divergent-policies-and-practices-in-malaria-endemic-countries
#16
REVIEW
Judith Recht, Elizabeth A Ashley, Nicholas J White
Primaquine is the only available antimalarial drug that kills dormant liver stages of Plasmodium vivax and Plasmodium ovale malarias and therefore prevents their relapse ('radical cure'). It is also the only generally available antimalarial that rapidly sterilises mature P. falciparum gametocytes. Radical cure requires extended courses of primaquine (usually 14 days; total dose 3.5-7 mg/kg), whereas transmissibility reduction in falciparum malaria requires a single dose (formerly 0.75 mg/kg, now a single low dose [SLD] of 0...
April 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29671225/effectiveness-of-early-hematopoietic-stem-cell-transplantation-in-preventing-neurocognitive-decline-in-mucopolysaccharidosis-type-ii-a-case-series
#17
A Selvanathan, C Ellaway, C Wilson, P Owens, P J Shaw, K Bhattacharya
The early progressive form of the X-linked disorder, Hunter syndrome or mucopolysaccharidosis type II (MPS II) (OMIM #309900), is characterized by cognitive decline, and pulmonary and cardiac complications that often cause death before 20 years of age. Deficiency of the lysosomal enzyme, iduronate-2-sulfatase (EC 3.1.6.13) results in deposition of the glycosaminoglycans, dermatan, and heparan sulfate in various tissues. In recent years, enzyme replacement therapy (ERT) has become the mainstay of treatment, but is expensive and ineffective in arresting cognitive decline...
April 19, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29670631/x-linked-lymphoproliferative-disease-type-1-a-clinical-and-molecular-perspective
#18
REVIEW
Neelam Panchal, Claire Booth, Jennifer L Cannons, Pamela L Schwartzberg
X-linked lymphoproliferative disease (XLP) was first described in the 1970s as a fatal lymphoproliferative syndrome associated with infection with Epstein-Barr virus (EBV). Features include hemophagocytic lymphohistiocytosis (HLH), lymphomas, and dysgammaglobulinemias. Molecular cloning of the causative gene, SH2D1A , has provided insight into the nature of disease, as well as helped characterize multiple features of normal immune cell function. Although XLP type 1 (XLP1) provides an example of a primary immunodeficiency in which patients have problems clearing primarily one infectious agent, it is clear that XLP1 is also a disease of severe immune dysregulation, even independent of EBV infection...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29670509/altered-gene-regulatory-function-of-kdm5c-by-a-novel-mutation-associated-with-autism-and-intellectual-disability
#19
Christina N Vallianatos, Clara Farrehi, Michael J Friez, Margit Burmeister, Catherine E Keegan, Shigeki Iwase
Intellectual disability (ID) affects up to 2% of the population world-wide and often coincides with other neurological conditions such as autism spectrum disorders. Mutations in KDM5C cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most common causes of X-linked ID. KDM5C encodes a histone demethylase for di- and tri-methylated histone H3 lysine 4 (H3K4me2/3), which are enriched in transcriptionally engaged promoter regions. KDM5C regulates gene transcription; however, it remains unknown whether removal of H3K4me is fully responsible for KDM5C-mediated gene regulation...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29669917/ribosomal-dna-copy-loss-and-repeat-instability-in-atrx-mutated-cancers
#20
Maheshi Udugama, Elaine Sanij, Hsiao P J Voon, Jinbae Son, Linda Hii, Jeremy D Henson, F Lyn Chan, Fiona T M Chang, Yumei Liu, Richard B Pearson, Paul Kalitsis, Jeffrey R Mann, Philippe Collas, Ross D Hannan, Lee H Wong
ATRX (alpha thalassemia/mental retardation X-linked) complexes with DAXX to deposit histone variant H3.3 into repetitive heterochromatin. Recent genome sequencing studies in cancers have revealed mutations in ATRX and their association with ALT (alternative lengthening of telomeres) activation. Here we report depletion of ATRX in mouse ES cells leads to selective loss in ribosomal RNA gene (rDNA) copy number. Supporting this, ATRX-mutated human ALT-positive tumors also show a substantially lower rDNA copy than ALT-negative tumors...
April 18, 2018: Proceedings of the National Academy of Sciences of the United States of America
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