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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
TLDR
Genetic evidence is presented that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome. Expand
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
TLDR
Observations of ALS4 suggest that mutations in SETX may cause neuronal degeneration through dysfunction of the helicase activity or other steps in RNA processing. Expand
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
TLDR
The HNPP locus is assigned to chromosome 17p11.2 and the presence of a large interstitial deletion associated with this disorder is demonstrated in three unrelated pedigrees, suggesting that these genetic disorders may be the result of reciprocal products of unequal crossover. Expand
Joubert syndrome (and related disorders) (OMIM 213300)
TLDR
Recent identification of the NPHP1, AHI1, and CEP290 genes has started to reveal the molecular basis of JS, which may implicate the primary cilium in these disorders. Expand
Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene
TLDR
The results indicate that P0 is a gene responsible for CMT1B, and point mutations found are located in the extracellular domain, which plays a significant role in myelin membrane adhesion. Expand
Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes
TLDR
Evidence is presented that the MTS is seen together with polymicrogyria, Váradi–Papp syndrome, and a new syndrome with encephalocele and cortical renal cysts, and it is proposed that it is found in multiple distinct clinical syndromes that may share common developmental mechanisms. Expand
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
TLDR
The NPHP1 deletion represents the first molecular defect associated with JS in a subset of mildly affected subjects, and Cerebellar malformations consistent with the MTS may be relatively common in patients with juvenile N PHP without classic symptoms of JS. Expand
SIMPLE interacts with NEDD4 and TSG101: Evidence for a role in lysosomal sorting and implications for Charcot‐Marie‐Tooth disease
TLDR
It is hypothesize that SIMPLE plays a role in the lysosomal sorting of plasma membrane proteins, and confirmed that human SIMPLE interacts with NEDD4 and also reports a novel interaction with tumor susceptibility gene 101 (TSG101), a class E vacuolar sorting protein. Expand
Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A
TLDR
A partial yeast artificial chromosome contig spanning the CMT1A gene region is constructed and the PMP–22 gene is mapped to the duplicated region, suggesting that over–expression of this gene may be one mechanism that produces the C MT1A phenotype. Expand
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
TLDR
Observations support the hypothesis that a reciprocal recombination mechanism involving the CMT1A-REP is responsible for the generation of both the duplicated and deleted chromosomes, and document the first examples in humans of Mendelian syndromes resulting from the reciprocal products of unequal exchange involving large intra-chromosomal segments. Expand
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