41 results found
  1. Life story: Rogier Kievit

    Having a child makes you focus on the things that truly matter.
    1. Cell Biology

    A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

    Natalia Felipe-Medina et al.
    Genetic and biochemical analysis reveal a variant in HSF2BP causing POI and C19ORF57/BRME1 as an interactor and stabilizer of HSF2BP by forming a complex with BRCA2, RAD51, RPA and PALB2.
    1. Biochemistry and Chemical Biology
    2. Developmental Biology

    Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome

    Katherine A Donovan et al.
    Thalidomide and its derivates induce degradation of many C2H2 zinc-finger transcription factors, including SALL4, providing insight into a long-standing mystery in modern pharmacology, and starting points for future drug development.
    1. Genetics and Genomics
    2. Medicine

    Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

    Jeanne L Theis et al.
    Hypoplastic left heart syndrome is reflected by reduced proliferative capacity of patient iPSC-derived cardiomyocytes and requires the activity of LRP2/APOB proteins, likely in conjunction with SHH and WNT signaling pathways.
    1. Genetics and Genomics

    A non-mosaic transchromosomic mouse model of Down syndrome carrying the long arm of human chromosome 21

    Yasuhiro Kazuki et al.
    TcMAC21 is an appropriate “next gen” mouse model for DS research, and provides a proof of concept of using artificial chromosomes to generate non-mosaic humanized animal models of chromosome disorders.
    1. Evolutionary Biology

    Computed tomography shows high fracture prevalence among physically active forager-horticulturalists with high fertility

    Jonathan Stieglitz et al.
    High reproductive effort constrains bone tissue response to physical activity-induced mechanical loading.
    1. Neuroscience

    Knockdown of hypothalamic RFRP3 prevents chronic stress-induced infertility and embryo resorption

    Anna C Geraghty et al.
    A chronic stressor prior to mating has lasting negative consequences on the fertility and fecundity of female rats, which can be prevented by blocking a single hypothalamic reproductive inhibitory hormone.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    ketu mutant mice uncover an essential meiotic function for the ancient RNA helicase YTHDC2

    Devanshi Jain et al.
    The mouse gene Ythdc2 exemplifies an evolutionarily ancient family of crucial regulators of the transition from germline stem cell divisions to meiosis.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

    Ute I Scholl et al.
    A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.

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