Results 1 to 10 of about 9,256,185 (298)
X-linked recessive ichthyosis with X-linked retinoschisis in two brothers: a case report [PDF]
Frontiers in GeneticsBackgroundX-linked ichthyosis (XLI) and X-linked retinoschisis (XLRS) are both inherited in an X-linked recessive manner. To date, no prior reports document both conditions’ simultaneous occurrence. This case presents two brothers who were diagnosed with
Kou Liu +4 more
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X chromosome inactivation, X-linked disorders, and cancer [PDF]
Frontiers in GeneticsX chromosome inactivation is an essential process that compensates for gene dosage differences between men and women. During early embryogenesis, one of the two X chromosomes in females is randomly selected for transcriptional silencing, inactivating ...
Consuelo Salas-Labadía +6 more
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Reclassification of the GRIA3 splice-site variant in an X-linked family with intellectual disability and psychiatric symptoms [PDF]
Frontiers in GeneticsBackgroundThe GRIA3 gene is located on the X chromosome and encodes a subunit (GluR3) of the a-amino-3- hydroxy-5-methylisoxazole-4-propionic acid receptor (AMPAR). The pathogenic variants of GRIA3 are mostly associated with neurodevelopmental disorders.
Lina Hu +4 more
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Idiopathic Infantile Nystagmus; Genetics foundation and Clinical association
Journal of Biochemical and Clinical Genetics, 2023 Nystagmus is an involuntary, periodic eye movement caused by a slow drift of fixation of either jerk, pendular, or rotatory form. The clinical and molecular assessment of nystagmus can provide crucial elements for a state-of-the-art differential ...
Basamat AlMoallem
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Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy
Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023 Objective·To summarize and analyze the clinical and genetic characteristics of adult cerebral adrenoleukodystrophy(ACALD ).Methods·The data of eight patients with ACALD who attended the Shanghai Sixth People′s Hospital, Shanghai Jiao Tong University ...
LIU Taotao +7 more
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Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
Nature Communications, 2021 Age at onset of X-linked dystonia-parkinsonism is 50% explained by the length of a repeat in an SVA insert. The authors perform a GWAS for genetic modifiers and discover three more loci, accounting for another 13% of variability in age at onset with the ...
Björn-Hergen Laabs +30 more
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Neurobiology of Disease, 2020 Neuroinflammation plays a pathogenic role in neurodegenerative diseases and recent findings suggest that it may also be involved in X-linked Dystonia-Parkinsonism (XDP) pathogenesis.
Tiziana Petrozziello +16 more
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JCRPE, 2021 Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA), primarily in the adrenal cortex and central nervous system.
Michael R Ryalls +2 more
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Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells
Disease Models & Mechanisms, 2016 X-linked dystonia-parkinsonism (XDP) is a hereditary neurodegenerative disorder involving a progressive loss of striatal medium spiny neurons. The mechanisms underlying neurodegeneration are not known, in part because there have been few cellular models ...
Naoto Ito +12 more
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X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B
Neurobiology of Disease, 2017 X-linked Dystonia-Parkinsonism (XDP) is a progressive neurodegenerative disease involving the loss of medium spiny neurons within the striatum. An XDP-specific haplotype has been identified, consisting of seven sequence variants which cluster around the ...
Christine A. Vaine +7 more
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