Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
Exploration of the causal relationship between inflammatory cytokines and type 2 diabetes via mendelian randomization and polygenic score. [PDF]
Zhang C +11 more
europepmc +1 more source
Genomic architecture and breeding trade‐offs of coconut drought tolerance
The coconut palm is an extremely popular and economically important crop, with around 65 million tonnes produced in 2023. Although Africa's coconut sector is growing rapidly, it—and the livelihoods that depend on it—is threatened by climate change, particularly increased drought.
Theodore S. Brook +15 more
wiley +1 more source
Sex-specific impact of vitamin D and B9 concentrations on neuroticism: a polygenic score-based study. [PDF]
Alfimova M +3 more
europepmc +1 more source
GenProb‐PCSM: A Simplified Weighted Germline Score for Prostate Cancer‐Specific Mortality
ABSTRACT Background We previously developed a tier‐based germline classification using the National Comprehensive Cancer Network (NCCN)‐recommended DNA damage repair (DDR) genes and KLK3 I179T to predict prostate cancer (PCa)‐specific mortality (PCSM).
Jun Wei +14 more
wiley +1 more source
Development and Validation of a Type 1 Diabetes Multi-Ancestry Polygenic Score. [PDF]
Deutsch AJ +19 more
europepmc +1 more source
Identifying resistance‐conferring cytochrome P450s requires integrating weed characterization, gene discovery and functional validation. No single approach is sufficient to distinguish causal resistance genes from herbicide‐metabolizing enzymes. Abstract Cytochrome P450 monooxygenases (P450s) play a pivotal role in metabolic herbicide resistance, yet ...
Satoshi Iwakami, Takuya Yamaguchi
wiley +1 more source
The polygenic score for age at menopause is independently associated with the response of controlled ovarian hyperstimulation in women undergoing IVF. [PDF]
van Zwol-Janssens C +5 more
europepmc +1 more source
This article reports the first characterization of Cry2Ab2 resistance in Crocidosema sp. Resistance appears to be autosomal and incompletely recessive, with a major‐gene contribution and potential involvement of additional genetic factors, and did not confer cross‐resistance to Cry1Ac or Cry1A.105. Abstract BACKGROUND The soybean bud borer, Crocidosema
Venicius E Pretto +12 more
wiley +1 more source
Genetic and Phenotypic Associations of the Polygenic Score of Delay Discounting and Life History Traits. [PDF]
Fieder M, Huber S.
europepmc +1 more source

