Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti+11 more
wiley +1 more source
Regulatory authorities put major emphasis on QT (interval)–prolonging properties of new molecular entities. Product information/Summaries of Product Characteristics (SmPCs) of multiple drugs contain warnings or contraindications regarding QT prolongation, e.g., on coadministration of QT‐prolonging drugs (QT drugs).
Melanie I. Then+5 more
wiley +1 more source
Genetic Predisposition to Higher Blood Pressure Increases Risk of Incident Hypertension and Cardiovascular Diseases in Chinese [PDF]
Xiangfeng Lu+26 more
openalex +1 more source
Development of a person-centred digital platform for the long-term support of people living with an adult-onset genetic disease predisposition: a mixed-methods study protocol [PDF]
Stephanie Best+11 more
openalex +1 more source
Genetic predisposition of ischaemic heart disease [PDF]
Kamejiro Yamashita+2 more
openaire +2 more sources
Potential New Expression Biomarkers for Anorexia Nervosa
ABSTRACT Anorexia nervosa (AN) is a psychiatric disorder with an estimated heritability of around 70%. Although the largest meta‐analysis of genome‐wide association studies on AN identified independent risk‐conferring loci for the disorder, the molecular mechanisms underlying the genetic basis of AN remain to be elucidated.
Camille Verebi+8 more
wiley +1 more source
Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases [PDF]
Nicole Hellenthal+8 more
openalex +1 more source
Genetic Predisposition of Diabetes to Coronary Artery Disease Due to ApoE Gene Polymorphism Using Allele Discrimination Real-Time Analysis as a Diagnostic Tool [PDF]
Mohammed Noori Salman+2 more
openalex +1 more source
ABSTRACT A large proportion of patients undergoing cognitive behavior therapy (CBT) for obsessive‐compulsive disorder (OCD) do not respond sufficiently to treatment. Identifying predictors for change in symptom severity after treatment could inform clinical decision‐making, allow for better‐tailored interventions, and avoid treatment failure.
Julia Bäckman+39 more
wiley +1 more source
AB0007 Shared genetic predisposition in rheumatoid arthritis–interstitial lung disease and familial pulmonary fibrosis [PDF]
P.-A. Juge+37 more
openalex +1 more source