Autor: bygadmin
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CYP2A6 associates with respiratory disease risk and younger age of diagnosis: a phenome-wide association Mendelian Randomization study
CYP2A6, a genetically variable enzyme, inactivates nicotine, activates carcinogens, and metabolizes many pharmaceuticals. Variation in CYP2A6 influences smoking behaviors and tobacco-related disease risk. This phenome-wide association study examined associations between a reconstructed version of our weighted genetic risk score (wGRS) for CYP2A6 activity with diseases in the UK Biobank (N = 395 887). Causal effects of phenotypic CYP2A6 activity (measured as the nicotine metabolite…
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Epigenetic Causes of Overgrowth Syndromes
Human overgrowth disorders are characterized by excessive prenatal and/or postnatal growth of various tissues. These disorders often present with tall stature, macrocephaly, and/or abdominal organomegaly and are sometimes associated with additional phenotypic abnormalities such as intellectual disability and increased cancer risk. As the genetic etiology of these disorders have been elucidated, a surprising pattern has…
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New sex-specific genetic variants for chronic kidney disease identified
by Anne Grimm, Leipzig University Working with an international consortium, scientists at Leipzig University have identified new genes that may play a role in chronic kidney disease. They analyzed data from more than 900,000 people and found effects that in some cases differed between men and women. These new findings may help scientists better understand sex-specific differences in…
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ZNF142 mutation causes sex-dependent neurologic disorder
BackgroundSex-specific predilection in neurological diseases caused by mutations in autosomal genes is a phenomenon whose molecular basis is poorly understood. We studied females of consanguineous Bedouin kindred presenting with severe global developme…
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Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
BackgroundCutaneous epidermal nevi are genotypically diverse mosaic disorders. Pathogenic hotspot variants in HRAS, KRAS, and less frequently, NRAS and BRAF may cause isolated keratinocytic epidermal nevi and sebaceous nevi or several different syndrom…
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The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer
The aim of this study is to evaluate the clinical validity of monitoring urine pellet DNA (upDNA) of bladder cancer (BC) by digital PCR (dPCR) as a biomarker for early recurrence prediction, treatment efficacy evaluation, and no-recurrence corroboratio…
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Researchers discover inherited genetic mutations can predict interval breast cancer
An investigation conducted by researchers at Karolinska Institutet has led to a discovery in breast cancer diagnostics and treatments that could reshape screening programs and clinical approaches. The study, published in JAMA Oncology, unravels the impact of rare genetic variants on interval breast cancers, providing new insights into tailored screening strategies. Interval cancers, a type of breast…
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Genotype and phenotype correlation of PHACTR1-related neurological disorders
BackgroundPHACTR1 (phosphatase and actin regulators) plays a key role in cortical migration and synaptic activity by binding and regulating G-actin and PPP1CA. This study aimed to expand the genotype and phenotype of patients with de novo variants in P…
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Role of CAMK2D in neurodevelopment and associated conditions
CAMK2 disorder is a relatively new disorder where three of the four CAMK2s (CAMK2A, B, and G) are shown to cause neurodevelopmental disorders. In this paper we describe a cohort of eight individuals with neurodevelopmental disorders and cardiac abnorma…
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Test y asesoramiento genético, ‘armas’ para cáncer de mama hereditario
La alianza MSD-Astrazeneca lanza una campaña y un informe para arrojar conocimiento sobre esta patología oncológica Pedro Pérez, Marta Moreno, Marisa Cots, Rute Álvarez y Beatriz Sánchez. 17 ene. 2024 14:00H SE LEE EN 5 MINUTOS POR LAURA CAMACHO La alianza MSD-Astrazeneca ha reunido este miércoles a expertos y pacientes oncológicos con un único objetivo: dar visibilidad al cáncer de…