Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
S Yamamoto, O Kanca, MF Wangler… - Nature Reviews …, 2024 - nature.com
Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …
variants of interest in individuals with rare diseases. However, showing that these variants …
Growth differentiation factor 11: A new hope for the treatment of cardiovascular diseases
Y Shao, Y Wang, J Xu, Y Yuan, D Xing - Cytokine & Growth Factor Reviews, 2023 - Elsevier
ABSTRACT Growth differentiation factor 11 (GDF11) is a member of the transforming growth
factor-β superfamily that has garnered significant attention due to its anti-cardiac aging …
factor-β superfamily that has garnered significant attention due to its anti-cardiac aging …
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Proteins containing the FERM (four-point-one, ezrin, radixin, and moesin) domain link the
plasma membrane with cytoskeletal structures at specific cellular locations and have been …
plasma membrane with cytoskeletal structures at specific cellular locations and have been …
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
Summary TIAM Rac1-associated GEF 1 (TIAM1) regulates RAC1 signaling pathways that
affect the control of neuronal morphogenesis and neurite outgrowth by modulating the actin …
affect the control of neuronal morphogenesis and neurite outgrowth by modulating the actin …
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
PC Marcogliese, SL Deal, J Andrews, JM Harnish… - Cell reports, 2022 - cell.com
Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo
mutations (DNMs) in a broadening range of genes. While these studies have implicated …
mutations (DNMs) in a broadening range of genes. While these studies have implicated …
MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function
SS Bajikar, AG Anderson, J Zhou, MA Durham… - Elife, 2023 - elifesciences.org
Loss-and gain-of-function of MeCP2 causes Rett syndrome (RTT) and MECP2 duplication
syndrome (MDS), respectively. MeCP2 binds methyl-cytosines to finely tune gene …
syndrome (MDS), respectively. MeCP2 binds methyl-cytosines to finely tune gene …
[HTML][HTML] GDF11 and aging biology-controversies resolved and pending
LB Driss, J Lian, RG Walker, JA Howard… - The journal of …, 2023 - ncbi.nlm.nih.gov
Since the exogenous administration of GDF11, a TGF-ß superfamily member, was reported
to have beneficial effects in some models of human disease, there have been many …
to have beneficial effects in some models of human disease, there have been many …
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research
Next‐generation sequencing is a prevalent diagnostic tool for undiagnosed diseases and
has played a significant role in rare disease gene discovery. Although this technology …
has played a significant role in rare disease gene discovery. Although this technology …
Novel insights into the pleiotropic health effects of growth differentiation factor 11 gained from genome-wide association studies in population biobanks
J Strosahl, K Ye, R Pazdro - BMC genomics, 2024 - Springer
Background Growth differentiation factor 11 (GDF11) is a member of the transforming growth
factor-β (TGF-β) superfamily that has gained considerable attention over the last decade for …
factor-β (TGF-β) superfamily that has gained considerable attention over the last decade for …
Functional substitutions of amino acids that differ between GDF11 and GDF8 impact skeletal development and skeletal muscle
Growth differentiation factor 11 (GDF11) and GDF8 (MSTN) are closely related TGF-β family
proteins that interact with nearly identical signaling receptors and antagonists. However …
proteins that interact with nearly identical signaling receptors and antagonists. However …