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https://www.readbyqxmd.com/read/29913094/defective-nacl-reabsorption-in-salivary-glands-of-eda-null-x-lhed-mice
#1
T Mukaibo, T Munemasa, C Masaki, C Y Cui, J E Melvin
Mutations in the ectodysplasin A gene ( EDA) cause X-LHED (X-linked hypohidrotic ectodermal dysplasia), the most common human form of ectodermal dysplasia. Defective EDA signaling is linked to hypoplastic development of epithelial tissues, resulting in hypotrichosis, hypodontia, hypohidrosis, and xerostomia. The primary objective of the present study was to better understand the salivary gland dysfunction associated with ectodermal dysplasia using the analogous murine disorder. The salivary flow rate and ion composition of the 3 major salivary glands were determined in adult Eda-deficient Tabby hemizygous male (Ta/Y) and heterozygous female (Ta/X) mice...
June 1, 2018: Journal of Dental Research
https://www.readbyqxmd.com/read/29912012/a-case-report-of-a-suspected-dual-diagnosis-22q11-2-deletion-syndrome-and-x-linked-chondrodysplasia-punctata
#2
Elise Brimble, Michelle Pacione, Ellyn Farrelly, David A Stevenson, Maura R Z Ruzhnikov
No abstract text is available yet for this article.
June 14, 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29909504/anderson-fabry-disease-in-heart-failure
#3
REVIEW
M M Akhtar, P M Elliott
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene that result in deficiency of the enzyme alpha-galactosidase A. The worldwide incidence of Fabry's disease is reported to be in the range of 1 in 40,000-117,000, although this value may be a significant underestimate given under recognition of symptoms and delayed or missed diagnosis. Deficiency in alpha-galactosidase A causes an accumulation of neutral glycosphingolipids such as globotriaosylceramide (Gb3) in lysosomes within various tissues including the vascular endothelium, kidneys, heart, eyes, skin and nervous system...
June 16, 2018: Biophysical Reviews
https://www.readbyqxmd.com/read/29909188/late-diagnosed-phenylketonuria-mimicking-x-linked-adrenoleukodystrophy-with-heterozygous-mutations-of-the-pah-gene-a-case-report-and-literature-review
#4
REVIEW
Yinglu Liu, Zhao Dong, Shengyuan Yu
Phenylketonuria (PKU) is a prevalent inherited metabolic disorder caused by a phenylalanine hydroxylase (PAH) or tetrahydrobiopterin (BH4) deficiency, which leads to the accumulation of phenylalanine (PHE). High blood levels of PHE have a toxic effect on the brain and are associated with several neurological signs. Most cases of PKU are identified during infancy, and diagnosis of PKU in adult is rare. Here, we describe a 29-year-old patient with progressive dementia and muscular weakness mimicking X-linked adrenoleukodystrophy...
June 11, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29908847/a-commercial-roundup%C3%A2-formulation-induced-male-germ-cell-apoptosis-by-promoting-the-expression-of-xaf1-in-adult-mice
#5
Xiao Jiang, Ning Zhang, Li Yin, Wen-Long Zhang, Fei Han, Wen-Bin Liu, Hong-Qiang Chen, Jia Cao, Jin-Yi Liu
Roundup® is extensively used for weed control worldwide. Residues of this compound may lead to side effects of the male reproductive system. However, the toxic effects and mechanisms of Roundup® of male germ cells remain unclear. We aimed to investigate the apoptosis-inducing effects of Roundup® on mouse male germ cells and explore the role of a novel tumor suppressor XAF1 (X-linked inhibitor of apoptosis-associated factor 1) involved in this process. We demonstrated that Roundup® can impair spermatogenesis, decrease sperm motility and concentration, and increase the sperm deformity rate in mice...
June 14, 2018: Toxicology Letters
https://www.readbyqxmd.com/read/29908649/vitreous-veils-in-x-linked-retinoschisis
#6
O Lezrek, O R Matsanga, N Htiti, S Tachfouti, M Laghmari, M Lezrek
No abstract text is available yet for this article.
June 13, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29908199/establishment-of-a-cell-model-of-x-linked-sideroblastic-anemia-using-genome-editing
#7
Kiriko Kaneko, Yoshiko Kubota, Kazumi Nomura, Haruka Hayashimoto, Taisei Chida, Naoto Yoshino, Marina Wayama, Katsutoshi Ogasawara, Yukio Nakamura, Ikuo Tooyama, Kazumichi Furuyama
ALAS2 gene mutations cause X-linked sideroblastic anemia. The presence of ring sideroblasts in a patient's bone marrow is the hallmark of sideroblastic anemia, but the precise mechanisms underlying sideroblast formation are largely unknown. Using a genome editing system, a mutation was introduced in the erythroid-specific enhancer of the ALAS2 gene in HUDEP2 cells, which were derived from human umbilical stem cells and can produce erythrocytes. The established cell line, termed HA2low, expressed less ALAS2 mRNA than did wild-type cells, even after erythroid differentiation...
June 13, 2018: Experimental Hematology
https://www.readbyqxmd.com/read/29907148/a-case-of-metaplastic-atrophic-gastritis-in-immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-ipex-syndrome
#8
Youyou Luo, Jie Chen, Youhong Fang, Jingan Lou, Jindan Yu
BACKGROUND: Autoimmune metaplastic atrophic gastritis is a chronic progressive inflammatory condition. The clinical spectrum includes pernicious anemia, atrophic gastritis, antibodies to parietal cell antigens and intrinsic factor, achlorhydria, hypergastrinemia and carcinoma. It is rare in paediatric cohorts. CASE PRESENTATION: We present the case of a boy with metaplastic atrophic gastritis in whom immune dysregulation, polyendocrinopathy, enteropathy, X-linked(IPEX) syndrome was confirmed by FOXP3 gene mutation...
June 15, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29907129/a-pivotal-role-of-bex1-in-liver-progenitor-cell-expansion-in-mice
#9
Yuting Gu, Weiting Wei, Yiji Cheng, Bing Wan, Xinyuan Ding, Hui Wang, Yanyun Zhang, Min Jin
BACKGROUND: The activation and expansion of bipotent liver progenitor cells (LPCs) are indispensable for liver regeneration after severe or chronic liver injury. However, the underlying molecular mechanisms regulating LPCs and LPC-mediated liver regeneration remain elusive. METHODS: Hepatic brain-expressed X-linked 1 (BEX1) expression was evaluated using microarray screening, real-time polymerase chain reaction, immunoblotting and immunofluorescence. LPC activation and liver injury were studied following a choline-deficient, ethionine-supplemented (CDE) diet in wild-type (WT) and Bex1-/- mice...
June 15, 2018: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29907114/amelogenesis-imperfecta-therapeutic-strategy-from-primary-to-permanent-dentition-across-case-reports
#10
Steve Toupenay, Benjamin Philippe Fournier, Marie-Cécile Manière, Chantal Ifi-Naulin, Ariane Berdal, Muriel de La Dure-Molla
BACKGROUND: Hereditary enamel defect diseases are regrouped under the name "Amelogenesis Imperfecta" (AIH). Both dentitions are affected. Clinical expression is heterogeneous and varies between patients. Mutations responsible for this multigene disease may alter various genes and the inheritance can be either autosomal dominant or recessive, or X-linked. Until now, no therapeutic consensus has emerged for this rare disease. CASE PRESENTATION: The purpose of this article was to report treatments of AIH patients from childhood to early adulthood...
June 15, 2018: BMC Oral Health
https://www.readbyqxmd.com/read/29907092/mosaicism-of-the-udp-galactose-transporter-slc35a2-in-a-female-causing-a-congenital-disorder-of-glycosylation-a-case-report
#11
Kristen Westenfield, Kyriakie Sarafoglou, Laura C Speltz, Elizabeth I Pierpont, Joan Steyermark, David Nascene, Matthew Bower, Mary Ella Pierpont
BACKGROUND: Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked oligosaccharide precursor of N-linked glycans. SLC35A2-CDG (previously CDG-IIm) is caused by hemizygous or heterozygous mutations in the X-linked gene SLC35A2 that encodes a UDP-galactose transporter. To date there have only been 10 reported patients with SLC35A2 mutations...
June 15, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29903771/daxx-functions-are-p53-independent-in-vivo
#12
Amanda R Wasylishen, Jeannelyn S Estrella, Vinod Pant, Gilda P Chau, Guillermina Lozano
Mutations in the death domain-associated protein (DAXX) have been recently identified in a substantial proportion of human pancreatic neuroendocrine tumors (PanNETs). Remarkably, however, little is known about the physiological role(s) of DAXX despite in vitro studies suggesting potential functions. Most prominently, and supported by tumor sequencing data, DAXX functions in concert with alpha thalassemia/mental retardation X-linked (ATRX) as a histone chaperone complex for the H3.3 variant. Studies have also identified potential roles in apoptosis, transcription, and negative regulation of the p53 tumor suppressor pathway...
June 14, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29903538/atp13a2-novel-mutations-causing-a-rare-form-of-juvenile-onset-parkinson-disease
#13
Jehan Suleiman, Nadia Hamwi, Ayman W El-Hattab
Parkinson disease is a common neurodegenerative disease that typically starts around the age of 60 years; however, juvenile-onset disease can occur rarely. Although Parkinson disease is typically sporadic; in rare occasions, it can be caused by a single gene defect that is inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Herein, we describe a 10-year-old child who had juvenile-onset parkinsonism with rigidity, bradykinesia, dystonia, gait disturbance, and cognitive impairment. Whole exome sequencing showed compound heterozygosity for two previously unreported novel mutations in ATP13A2 (PARK9): a paternally inherited c...
June 11, 2018: Brain & Development
https://www.readbyqxmd.com/read/29903444/genetics-of-cerebellar-disorders
#14
Enza Maria Valente, Sara Nuovo, Dan Doherty
The approach to identifying a genetic cause in patients with cerebellar disorders relies on history, examination, consultation, and testing, combined with specialized expertise because they are rare and genetically diverse. Cerebellar disorders can be caused by a variety of DNA alterations including single-nucleotide changes, small insertions or deletions, larger copy number variants, and nucleotide repeat expansions, exhibiting autosomal-recessive, autosomal-dominant (inherited and de novo), X-linked, and mitochondrial modes of inheritance...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29902095/diurnal-variations-of-foveoschisis-by-optical-coherence-tomography-in-patients-with-rs1-x-linked-juvenile-retinoschisis
#15
Maria Fernanda Abalem, David C Musch, David G Birch, Mark E Pennesi, John R Heckenlively, Thiran Jayasundera
BACKGROUND: To evaluate diurnal variations in macular schisis cavities in patients with X-linked juvenile retinoschisis (XLRS) with pathogenic variants in the RS1 gene using spectral-domain optical coherence tomography (SD-OCT). METHODS: Three consecutive patients with a clinical diagnosis of XLRS and pathogenic variants in the RS1, treated with carbonic anhydrase inhibitors (CAIs). Observational procedures: SD-OCT scans of the macula were acquired at 9 a.m., 1 p...
June 14, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29901616/a-novel-dmd-splicing-mutation-found-in-a-family-responsible-for-x-linked-dilated-cardiomyopathy-with-hyper-ckemia
#16
Jin Tang, Xueqin Song, Guang Ji, Hongran Wu, Shuyan Sun, Shan Lu, Yuan Li, Chi Zhang, Huiqing Zhang
This study was aimed to detect a new mutation responsible for X-linked dilated cardiomyopathy with hyper-CKemia.We studied a proband who presented with cardiac symptoms with hyper-CKemia, but no clinical skeletal involvement in physical examination, laboratory tests, electromyography, echocardiography, and magnetic resonance imaging (MRI) of cardiac muscles. Muscle biopsy for histopathology and immunohistochemistry for accessing sarcolemma changes. The next-generation sequencing and bioinformatics analysis were performed on the patient and Sanger sequencing was confirmed on the other 6 unaffected families...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29901172/dkc1-serves-as-a-potential-prognostic-biomarker-for-human-clear-cell-renal-cell-carcinoma-and-promotes-its-proliferation-migration-and-invasion-via-the-nf%C3%A2-%C3%AE%C2%BAb-pathway
#17
Meng Zhang, Yu Pan, Ranran Jiang, Pingfu Hou, Haixia Shan, Fang Chen, Tao Jiang, Jin Bai, Junnian Zheng
DKC1, an X‑linked gene encoding dyskerin at Xq28, is a crucial component of the telomerase complex and is indispensable for normal telomere function and the post‑-transcriptional modification of precursor rRNA. It has been revealed to exert diverse biological functions and prognostic values in numerous types of cancers. Our present study was aimed at examining DKC1 expression in normal renal tissues and clear cell renal cell carcinoma (ccRCC) samples and the prognostic value of DKC1 in ccRCC. We examined DKC1 protein expression levels in tissue microarrays including 307 cases of ccRCC tissues and in 75 pairs of ccRCC and paracancerous tissues with immunohistochemistry...
June 11, 2018: Oncology Reports
https://www.readbyqxmd.com/read/29901068/mitotic-kinase-pbk-topk-as-a-therapeutic-target-for-adult-t%C3%A2-cell-leukemia-lymphoma
#18
Chie Ishikawa, Masachika Senba, Naoki Mori
Adult T‑cell leukemia/lymphoma (ATLL) is a disorder involving human T-cell leukemia virus type 1 (HTLV‑1)-infected T‑cells characterized by increased clonal neoplastic proliferation. PDZ-binding kinase (PBK) [also known as T‑lymphokine-activated killer cell-originated protein kinase (TOPK)] is a serine/threonine kinase expressed in proliferative cells and is phosphorylated during mitosis. In this study, the expression and phosphorylation of PBK/TOPK were examined by western blot analysis and RT‑PCR...
June 1, 2018: International Journal of Oncology
https://www.readbyqxmd.com/read/29899110/differentiated-macrophages-acquire-a-pro-inflammatory-and-cell-death-resistant-phenotype-due-to-increasing-xiap-and-p38-mediated-inhibition-of-ripk1
#19
Dikchha Rijal, Ardeshir Ariana, Andrew Wight, Kwangsin Kim, Norah A Alturki, Zoya Aamir, Emmanuelle Ametepe, Robert G Korneluk, Christopher Tiedje, Manoj B Menon, Matthias Gaestel, Scott McComb, Subash Sad
Monocytes differentiate into macrophages, which deactivate invading pathogens. Macrophages can be resistant to cell death mechanisms in some situations and the mechanisms involved are not clear. Here, using mouse immune cells, we investigated whether the differentiation of macrophages affects their susceptibility to cell death by the ripoptosome/necrosome pathways. We show that treatment of macrophages with a mimetic of second mitochondrial activator of caspases (SMAC) resulted in ripoptosome driven cell death that specifically depended on tumor necrosis factor α (TNFα) expression and the receptor-interacting serine/threonine protein kinase 1 (RipK1)-RipK3-caspase-8 interaction in activated and cycling macrophages...
June 13, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29898906/-designer-babies-almost-thirty-years-on
#20
Alan H Handyside
The first pregnancies and live births following IVF and preimplantation genetic testing (PGT), formerly known as preimplantation genetic diagnosis (PGD), were reported in 1990, almost 30 years ago, in several couples at risk of X-linked inherited conditions, which typically only affect boys inheriting the X chromosome with the affected gene from their carrier mothers. At that time, it was only possible to identify the sex of the embryo by amplifying a Y-linked repeat sequence in single cells biopsied at cleavage stages and avoid the transfer of males, half of which would be affected...
June 13, 2018: Reproduction: the Official Journal of the Society for the Study of Fertility
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