Results 201 to 210 of about 1,668,727 (307)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila   +3 more
wiley   +1 more source

Stage-matched conductive hydrogel with pH/ROS/MMP9 triple-responsive salidroside release for post-infarction myocardial repair. [PDF]

open access: yesMater Today Bio
Song J   +12 more
europepmc   +1 more source

Real‐Life Study on Gilteritinib‐Related Infections (GilteRInf): An Italian SEIFEM Study

open access: yes
American Journal of Hematology, EarlyView.
Elisa Buzzatti   +25 more
wiley   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang   +3 more
wiley   +1 more source

The effect of salidroside, an active component of Rhodiola rosea, on the metabolic activity of rat and human cytochromes P450 in preclinical studies. [PDF]

open access: yesPharmacol Rep
Klaskova E   +9 more
europepmc   +1 more source

Mental Health Stigma in Psychiatric Genetics: Insights and Recommendations From the ISPG Member Survey on Stigma

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Little is known about how stigma is perceived within psychiatric genetics, a field increasingly central to public discussions about heredity, neurodiversity, and psychiatric risk. Understanding how stigma is perceived and experienced by psychiatric geneticists is important for guiding responsible communication and future stigma‐reduction ...
Anaïs B. Thijssen   +14 more
wiley   +1 more source

Remifentanil self-administration promotes circuit- and sex-specific adaptations within the prefrontal-accumbens pathways. [PDF]

open access: yesFront Cell Neurosci
Kokane SS   +7 more
europepmc   +1 more source

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