X-Linked
Dermatomyositis-like syndrome in x-linked agammaglobulinemia
... conditions. X-linked agammaglobulinemia (XLA) has been occasionally as- sociated with cutaneous and muscular manifestations resembling dermatomyositis, often termed dermato- myositis-like syndrome ...
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The use of reverse transcription-PCR for the diagnosis of X-linked chronic granulomatous disease
... The study included 8 unrelated male Bra- zilian patients with probable X-linked CGD (2 Blacks and 6 Caucasians; age 2-8 years; height 88-108 cm; weight 11-19 kg). The patients presented clinical histories ...
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Dosage compensation in the mouse balances up-regulation and silencing of X-linked genes.
... 252 X-linked clones (corresponding to 180 named genes) and 6,945 autosomal clones (corresponding to 5,085 named genes) that consistently gave above-background signals with ES cell ...
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X-linked adrenal hipoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation
... The third child of this family was a full term male who had a clinical diagnosis of PAI at 16 days of life. Hormonal surveys revealed elevated 17-OHP (16.8 ng/mL, reference for age: 1.6-9.6) and a diagnosis of CAH was ...
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Evaluation of retinoids for induction of the redundant gene ABCD2 as an alternative treatment option in X-linked adrenoleukodystrophy.
... needed. X-ALD is caused by mutations in the ABCD1 gene, encoding the peroxisomal membrane protein ABCD1, resulting in impaired very long-chain fatty acid ...
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X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon
... The X-linked spinal and bulbar muscular atrophy (Kennedy’s disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the ...
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Combating oncogene activation associated with retrovirus-mediated gene therapy of X-linked severe combined immunodeficiency
... Clonal expansion, the accelerated prolif- eration of a small number of progenitor cells, yields reduced variation in the resulting he- matopoietic populations and is a hallmark of nonmalignant and malignant ...
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Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome
... Marfanoid features associated with mental retardation are often a diagnostic challenge for general neurologists, since sev- eral genetic and inborn metabolic diseases present this clinical spectrum. Some of these ...
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Influence of repetitive elements on pathogenic copy number variants (CNVs) associated with X-Linked Intellectual Disability (XLID)
... human X chromosome is considered an interesting case of study regarding copy number variants due to a distinct gene burden between hemizygotic males and heterozygotic ...Therefore, X-linked alleles ...
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Origination of an X-linked testes chimeric gene by illegitimate recombination in Drosophila.
... the X chromosome, intergenic sequence was recruited into the protein-coding region creating a chimeric peptide with ; 33 new amino acid ...new X-linked gene has evolved testes-specific ...
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X-linked gene transcription patterns in female and male in vivo, in vitro and cloned porcine individual blastocysts.
... and X-linked gene expression in obtained clones and ...of X- inactivation and X-linked genes in pig embryos during pre- implantation development, although these processes have been ...
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Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis
... Abstract: Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: ...
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The X-linked tumor suppressor TSPX interacts and promotes degradation of the hepatitis B viral protein HBx via the proteasome pathway.
... In the present study, we show, for the first time, that the X- linked tumor suppressor TSPX enhances HBx-degradation by inhibiting a proteasome regulatory subunit RPN3. Whereas a couple of mechanisms ...
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Development and validation of a multiplex-PCR assay for X-linked intellectual disability
... the X-chromosome fragile site A, fragile site E (locus in Xq28) is also associated with intellectual disability [FRAXE; MIM ...of X-linked intellectual disability and is the result of silencing of ...
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Fine mapping of dominant X-linked incompatibility alleles in Drosophila hybrids.
... The sex specific lethality found in mel/san hybrid males is distinct from any known Mendelian sex-specific lethal mutations previously discovered in a pure species; it is dominant/semi- dominant and only partially ...
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X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report
... They presented clinical symptoms in two females related to the affected boys. MRI findings of some females demonstrated total or partial ACC. Bonneau et al. concluded that by studying further cases, ACC could be ...
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Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience
... this X-linked deletion seem to be related with the loss of MAGEA9B gene, from the X-Cancer Testis Antigens gene family, which is involved in the spermatogenesis regulation, among others presenting ...
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Immunophenotyping lymphocyte and acute phase proteins in canine X-linked muscular dystrophy
... Duchenne Muscular Dystrophy (DMD) is the most common X-linked muscular disease affecting humans. The Golden Retriever Muscular Dystrophy model (GRMD) is consider the most suitable for several studies. This ...
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The role of microRNAs in X-linked myotubular myopathy
... Miopatia miotubular associada ao cromossoma X (XLMTM) é a forma mais severa de um grupo de doenças musculares congénitas denominado miopatias centronucleares. XLMTM é caracterizada por uma marcada redução de tónus ...
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Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo’s Oil
... for X- ALD in order to obtain a better prognosis for the patients and to slow or reverse the progression of ...for X-ALD treatment but in most cases without satisfactory results (Scriver et ...
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