536 results found
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

    Andrew T Timberlake et al.
    Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.
    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.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Craniosynostosis: An epistatic explanation

    Yoshihiro Komatsu, Yuji Mishina
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    1. Cell Biology
    2. Ecology

    The Natural History of Model Organisms: From molecular manipulation of domesticated Chlamydomonas reinhardtii to survival in nature

    Severin Sasso et al.
    Dubbed the 'green yeast', the model alga C. reinhardtii has profoundly advanced many areas of biology, but much remains to be learnt about its life in the wild.
    1. Ecology

    The Natural History of Model Organisms: Peromyscus mice as a model for studying natural variation

    Nicole L Bedford, Hopi E Hoekstra
    The deer mouse (Peromyscus) has emerged as a model system for studying many aspects of biology, supported by extensive historical knowledge of its fascinating and varied natural history.
    1. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    IRF4 haploinsufficiency in a family with Whipple’s disease

    Antoine Guérin et al.
    Autosomal dominant IRF4 deficiency is the first genetic etiology of Whipple's disease, a very rare chronic condition following a rather common infection by Tropheryma whipplei.
    1. Biochemistry and Chemical Biology
    2. Cell Biology

    Proteasome storage granules protect proteasomes from autophagic degradation upon carbon starvation

    Richard S Marshall, Richard D Vierstra
    Proteasomes are protected from autophagic elimination upon carbon starvation by sequestration into cytoplasmic storage granules, which aid cell fitness by providing a cache of proteasomes that can be rapidly remobilized when carbon availability improves.
    1. Developmental Biology
    2. Stem Cells and Regenerative Medicine

    Embryonic hematopoiesis modulates the inflammatory response and larval hematopoiesis in Drosophila

    Wael Bazzi et al.
    Distinct hematopoietic waves interact via transcriptional cascades specific to embryonic hemocytes to ensure the proper immune response in Drosophila.​.
    1. Structural Biology and Molecular Biophysics

    Molecular architecture of the 90S small subunit pre-ribosome

    Qi Sun et al.
    The nearly complete architecture of the gigantic 90S precursor of small ribosomal subunit is determined by cryo-EM.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    wtf genes are prolific dual poison-antidote meiotic drivers

    Nicole L Nuckolls et al.
    Selfish wtf meiotic drive genes use overlapping transcripts to encode both a trans-acting poison to kill gametes that do not inherit the gene and a gamete-autonomous antidote to specifically rescue the gametes that do.

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