The role of epigenetic factors in the pathogenesis of familial X-linked mental retardation (XLMR) [PDF]
, 2010 Mental retardation (MR) is a handicap with severe implications not only for thosethat suffer from this disability, but also for their families, society and the welfaresystems which support them.
Carvill, Gemma
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Care of girls and women with Turner syndrome: beyond growth and hormones
Endocrine Connections, 2017 Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis,
Caroline Culen +4 more
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An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita [PDF]
, 2003 Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NROB1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive ...
Beck-Peccoz, P +15 more
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A genetic basis for a postmeiotic X versus Y chromosome intragenomic conflict in the mouse. [PDF]
, 2012 Intragenomic conflicts arise when a genetic element favours its own transmission to the detriment of others. Conflicts over sex chromosome transmission are expected to have influenced genome structure, gene regulation, and speciation.
Shantha K. Mahadevaiah (94714) +23 more
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Special Issue: “X-Linked Hypophosphatemia”
Endocrines, 2023 Rickets and osteomalacia are associated with impaired mineralization in growth plate cartilage and the bone osteoid [...]
Seiji Fukumoto, Yukihiro Hasegawa
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Mild phenotype in an adult male with X-linked adrenoleukodystrophy – case report [PDF]
, 2015 Key Clinical Message X-linked adrenoleukodystrophy may present with a deceptively mild phenotype, even in adult males. Tight collaboration between clinicians, geneticists, biochemists, and other specialists is increasingly required for clarification of ...
Jørum, Ellen +7 more
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X-linked gene expression levels for each independent sample type.
, 2021 (A) qRT-PCR analysis of RNA levels for five X-linked genes in DR3#6; LctraIR7 or wild type XX and XY mid-staged pupae. Expression of X- linked gene is higher in DR3#6; LctraIR7 XX than XY pupae for all genes except Lczfh2 (Lcaru, P = 0.008; LcCG1909, P =
Megan E. Williamson (11576936) +2 more
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Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis
Frontiers in Medicine, 2023 PurposeCarbonic anhydrase inhibitors (CAIs) reduce macular schisis in patients with X-linked retinoschisis (XLRS). The purpose of this study was to determine if CAIs reduce the incidence of complications from XLRS, including macular atrophy, retinal ...
Stephanie Wey +10 more
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A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]
, 2011 the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
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Molecular Therapy: Nucleic AcidsDYT1 dystonia is a neurological movement disorder characterized by a dominant 3-base pair deletion (ΔGAG) in the TOR1A gene. This study demonstrates a gene-editing approach that selectively targets the ΔGAG mutation in the TOR1A DYT1 allele while ...
Katia E. Maalouf +13 more
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