Variants in RABL2A causing male infertility and ciliopathy
bioRxiv, 2020 Purpose Approximately 7% of men suffer from infertility worldwide and sperm abnormalities are the major cause. Though genetic defects are thought to underlie a substantial fraction of all male infertility cases, the actual molecular bases are usually ...
Xinbao Ding +5 more
semanticscholar +1 more source
A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells [PDF]
, 2018 The two centrioles of the centrosome in quiescent cells are inherently asymmetric structures that differ in age, morphology and function. How these asymmetric properties are established and maintained during quiescence remains unknown. Here, we show that
Betleja, Ewelina +3 more
core +2 more sources
Nonsense Mutations in Rare and Ultra‐Rare Human Disorders: An Overview
IUBMB Life, Volume 77, Issue 6, June 2025.ABSTRACT Over 7000 rare diseases have been described, collectively affecting 350 million people worldwide. Most of these conditions result from nonsense mutations, representing approximately 10% of all genetic mutations associated with human inherited diseases.
Emanuele Vitale +8 more
wiley +1 more source
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms [PDF]
, 2016 Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases.
Apic, G +55 more
core
Zebrafish: a vertebrate tool for studying basal body biogenesis, structure, and function. [PDF]
, 2016 Understanding the role of basal bodies (BBs) during development and disease has been largely overshadowed by research into the function of the cilium.
A Borovina +96 more
core +1 more source
Wdpcp, a PCP Protein Required for Ciliogenesis, Regulates Directional Cell Migration and Cell Polarity by Direct Modulation of the Actin Cytoskeleton [PDF]
, 2013 Planar cell polarity (PCP) regulates cell alignment required for collective cell movement during embryonic development. This requires PCP/PCP effector proteins, some of which also play essential roles in ciliogenesis, highlighting the long-standing ...
Adam V. Kwiatkowski +74 more
core +4 more sources
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies [PDF]
, 2017 Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
Alamro, Rana +13 more
core
Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies [PDF]
, 2016 The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration.
Cheetham, ME +6 more
core +1 more source
A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance
Nature Network Boston, 2019 Mucociliary clearance, the physiological process by which mammalian conducting airways expel pathogens and unwanted surface materials from the respiratory tract, depends on the coordinated function of multiple specialized cell types, including basal stem
R. Chivukula +20 more
semanticscholar +1 more source