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Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
TLDR
An enzymatic rather than a structural protein defect causing a muscular dystrophy is demonstrated, a defect that may have regulatory consequences, perhaps in signal transduction. Expand
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
TLDR
It is found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD. Expand
Clinical spectrum of fibroblast growth factor receptor mutations
TLDR
The present review list all mutations described to date in these three fibroblast growth factor receptor genes and the phenotypes associated with them, including the most suggested causative mechanisms for these conditions. Expand
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
TLDR
Using a positional cloning approach, the gene for a form of limb-girdle muscular dystrophy that was previously mapped to chromosome 2p13 (LGMD2B) is identified and the proposed name `dysferlin' combines the role of the gene in producing muscular Dystrophy with its C. elegans homology. Expand
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
TLDR
The largest exome sequencing study of autism spectrum disorder (ASD) to date, using an enhanced analytical framework to integrate de novo and case-control rare variation, identifies 102 risk genes at a false discovery rate of 0.1 or less, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD. Expand
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
TLDR
It is shown for the first time that the absence of a collagen isoform impairs embryonic cell proliferation and/or migration as a primary or secondary effect. Expand
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
TLDR
The discovery of RAB23 mutations in patients with Carpenter syndrome implicates HH signaling in cranial-suture biogenesis--an unexpected finding, given that craniosynostosis is not usually associated with mutations of other HH-pathway components--and provides a new molecular target for studies of obesity. Expand
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
TLDR
A homozygous mutation in the delta SG gene (a single nucleotide deletion that alters its reading frame) is the cause of LGMD2F, a heterogeneous group of inherited neuromuscular disorders characterized by proximal muscular weakness of the pelvic and shoulder girdles and a variable progression with symptoms. Expand
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
TLDR
Two novel genes, SOS2 and LZTR1, associated with Noonan syndrome are identified, thereby expanding the molecular spectrum of RASopathies and additional functional studies are needed to elucidate the role of LZ TR1 in RAS/MAPK signalling and in the pathogenesis of Noonan Syndrome. Expand
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
TLDR
Thirteen novel polymorphic alterations were characterized, confirming previous reports that TCOF1 has an unusually high rate of single‐nucleotide polymorphisms within its coding region and suggesting a possible different mechanism leading to TCS or genetic heterogeneity for this condition. Expand
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