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Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).
Mol Biol Rep
January 2025
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square House, London, WC1N 3BG, UK.
Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
View Article and Find Full Text PDFA novel BLK heterozygous mutation (p.Met121lle) in maturity-onset diabetes mellitus: A case report and literature review.
Diabet Med
January 2025
Key Laboratory of Endocrine Gland Diseases of Zhejiang Province, Department of Endocrinology, Geriatric Medicine Center, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, China.
Maturity onset diabetes of the young (MODY) is a highly heterogeneous monogenic disease that occurs due to β-cell dysfunction. It is divided into different types depending on the gene mutated, and a total of 16 genes have been found to be associated with MODY. However, due to the current lack of understanding of monogenic diabetes, 90% of MODY is currently misdiagnosed and ignored in clinical practice.
View Article and Find Full Text PDFKDM6A facilitates Xist upregulation at the onset of X inactivation.
Biol Sex Differ
January 2025
Department of Laboratory Medicine and Pathology, School of Medicine, University of Washington, Seattle, WA, 98195, USA.
Background: X chromosome inactivation (XCI) is a female-specific process in which one X chromosome is silenced to balance X-linked gene expression between the sexes. XCI is initiated in early development by upregulation of the lncRNA Xist on the future inactive X (Xi). A subset of X-linked genes escape silencing and thus have higher expression in females, suggesting female-specific functions.
View Article and Find Full Text PDFReal-world clinical outcome of unresectable locally advanced & de-novo metastatic pancreatic ductal adenocarcinoma: a multicentre retrospective study.
BMC Cancer
January 2025
Department of Medical Oncology, Cancer Centre of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Background: Pancreatic ductal adenocarcinoma (PDAC) remains one of the most lethal malignancies, with limited treatment options yielding poor outcomes. This study aimed to evaluate the real-world clinical characteristics, treatment patterns, and outcomes of patients with locally advanced unresectable and de-novo metastatic PDAC in Saudi Arabia, providing regional data to compare with international benchmarks.
Methods: This is a retrospective, multicentre study involving 350 patients diagnosed with unresectable locally advanced or de-novo metastatic PDAC between January 2015 and November 2023.
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.
Cerebellum
January 2025
Department of Neurology, Division of Neuro-Visual & Vestibular Disorders, The Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 N. Wolfe Street, Baltimore, MD, USA.
A 50-year-old woman with a 20-year history of gait instability presented with new-onset vertigo and oscillopsia. Examination revealed bilateral vestibular loss, cerebellar ataxia, sensory neuropathy, a "yes-yes" head tremor, nystagmus and a family history of a similar syndrome. Genetic testing for cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (RFC1) was negative, but whole exome sequencing identified a novel mutation in the DNA methyltransferase 1 (DNMT1) gene, broadening the differential diagnosis for this phenotype.
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