Results 231 to 240 of about 372,458 (325)

Schizophrenia Genetics Modulates Clinical Depressive Features

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti   +13 more
wiley   +1 more source

Interplay of genetic predisposition, plasma metabolome and Mediterranean diet in dementia risk and cognitive function. [PDF]

open access: yesNat Med
Liu Y   +19 more
europepmc   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé   +5 more
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson   +3 more
wiley   +1 more source

The Politics of Framing the Student Problem: Inquiries Into Australian Civics Education, 2006–2024

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Recurring debates about civics, the kinds of history that should, and should not, be taught in school, and ‘standards debates’ about the ‘basics’ typically follow on the heels of recurring moral panics about the ‘declining’ state of ‘our’ education system.
Patrick O'Keeffe   +2 more
wiley   +1 more source

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