Figure 1: Pedigree relationship of the sequenced Arabidopsis samples. Figure 2: Patterns of diversity, recombination and de novo mutation. We do not presume that heterozygosity is the only ...

Fragile X syndrome (FXS) is the first inherited cause of development, intellectual and conductual problems. The estimated prevalence of affected individuals is 1/4000 males and 1/6000 females, and ...

Tezacaftor is an investigational CFTR corrector that, in combination with ivacaftor, has been shown to improve lung function and decrease sweat chloride concentrations in a phase 2 clinical trial ...

Rates of potentially actionable germline variants in homologous recombination repair genes in a large international cohort outside of the United States. This is an ASCO Meeting Abstract from the 2023 ...

A Randomized, Open-Label, Multicenter, Phase III Study of Epoetin Alfa Versus Best Standard of Care in Anemic Patients With Metastatic Breast Cancer Receiving Standard Chemotherapy ...

Eligible patients are limited to apolipoprotein E ε4 (ApoE ε4) heterozygotes or non-carriers, which is a requirement for the class of currently approved amyloid-targeting therapies in Great Britain.

Biogen BIIB and partner Eisai announced that the European Commission (EC) has granted marketing authorization to Leqembi (lecanemab) for early Alzheimer’s disease (AD). The regulatory body has ...

Mutation carriers had severe obesity, increased lean mass, increased linear growth, hyperphagia, and severe hyperinsulinemia; homozygotes were more severely affected than heterozygotes.

The narrow indication for treatment, limited to ApoE ε4 non-carriers or heterozygotes with confirmed amyloid pathology, restricts the drug's market potential within the broader Alzheimer's ...

R&D Expenses: Research and development expenses for the quarter ended March 31, 2025, were $10.1 million, compared to $9.7 million for the quarter ended March 31, 2024. The increase in R&D expenses ...

A new study published today in PLoS ONE showed that incidence and morbidity of many diseases and disorders correlate negatively with frequencies of Rh+ heterozygotes (i.e. the carriers of one copy ...