157 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. Cancer Biology
    2. Genetics and Genomics

    Abnormal oxidative metabolism in a quiet genomic background underlies clear cell papillary renal cell carcinoma

    Jianing Xu et al.
    A distinct class of kidney tumors is characterized not by patterns of somatic mutations, but by a distinct metabolism.
    1. Neuroscience

    A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1

    Yi Bessie Liu et al.
    A mouse with a defined mutation in an extracellular matrix protein that is expressed in selected neurons sheds light on circuit abnormalities producing transient hyperkinetic movements.
    1. Medicine

    A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency

    Baptiste Fouquet et al.
    Bilallelic mutations of FANCM, a DNA-damage response gene whose heterozygous mutations predispose to breast cancer, are involved in a familial case of Primary Ovarian Insufficiency establishing a link between infertility and cancer.
    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. Evolutionary Biology
    2. Microbiology and Infectious Disease

    Common host variation drives malaria parasite fitness in healthy human red cells

    Emily R Ebel et al.
    Human red blood cells from healthy donors display marked biophysical and genetic variation that impacts the growth of Plasmodium falciparum malaria parasites, outside of known disease alleles.
    1. Developmental Biology
    2. Chromosomes and Gene Expression

    Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

    Budd A Tucker et al.
    Skin cells from a patient with retinitis pigmentosa have been used to generate induced pluripotent stem cells, which could potentially form the basis of new treatments for this disease.
    1. Genetics and Genomics
    2. Medicine

    KDM5A mutations identified in autism spectrum disorder using forward genetics

    Lauretta El Hayek et al.
    Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.
    1. Cancer Biology
    2. Cell Biology

    Human pancreatic cancer cell exosomes, but not human normal cell exosomes, act as an initiator in cell transformation

    Karoliina Stefanius et al.
    Exosomes secreted from pancreatic cancer cells can function as a classic initiator in the multi-step cellular transformation process.
    1. Neuroscience

    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

    Poh Hui Chia et al.
    A biallelic missense mutation in the highly conserved, neuron-specific kinase CAMK2A abrogates holoenzyme assembly and causes a new inherited neurodevelopmental disease.

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