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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.
TLDR
Photoreceptor dysplasia and degeneration in Crb1 mutants strongly vary with genetic background, suggesting that the variability in phenotypes of human patients that carry mutations in CRB1 may be due to interactions with background modifiers in addition to allelic variations. Expand
Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity
TLDR
The fat mutation represents the first demonstration of an obesity–diabetes syndrome elicited by a genetic defect in a prohormone processing pathway. Expand
New Alström syndrome phenotypes based on the evaluation of 182 cases.
TLDR
The wide-ranging and complex spectrum of phenotypes reported herein broadens those previously described for Alström syndrome and will aid physicians in making an early and accurate diagnosis and will help effect appropriate monitoring and treatment. Expand
Alström Syndrome
TLDR
There is no specific therapy for Alström Syndrome, but early diagnosis and intervention can moderate the progression of the disease phenotypes and improve the longevity and quality of life for patients. Expand
Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.
TLDR
Results from these experiments indicate that Nr2e3 message is expressed prior to the development of S-cones, and mutations in this gene lead to retinal dysplasia and degeneration by disrupting normal photoreceptor cell topography as well as cell-cell interactions. Expand
Alström Syndrome: Genetics and Clinical Overview
TLDR
Research into the pathogenesis of Alström syndrome should lead to better management and treatments for individuals, and have potentially important ramifications for other rare ciliopathies, as well as more common causes of obesity and diabetes, and other conditions common in the general population. Expand
Ocular abnormalities in Large myd and Large vls mice, spontaneous models for muscle, eye, and brain diseases
TLDR
Ocular defects in mice homozygous for a new allele of the Large gene, veils, and for Large(myd) mice are demonstrated and hypoglycosylation of alpha-dystroglycan previously implicated in muscle and brain defects is observed in the retina and may contribute to the ocular abnormalities. Expand
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
TLDR
The detection of an uncharacterized transcript, KIAA0328, led to the identification of the gene ALMS1, which contains sequence variations, including four frameshift mutations and two nonsense mutations, that segregate with Alström syndrome in six unrelated families. Expand
Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases.
TLDR
TUB, the human homolog of mouse tub, and two newly characterized family members, TULP1 for tubby like protein 1 and TULp2, which share 60-90% amino acid identity across their conserved C-terminal region and have distinct tissue expression patterns are described. Expand
Molecular cloning and sequencing of cDNAs encoding the entire rat fatty acid synthase.
TLDR
Active sites and substrate binding sites were located within the sequence, thus establishing the order of domains on the multifunctional animal fatty acid synthase as condensing enzyme-transferase-dehydrase-enoyl reductase-ketoreductase-acyl carrier protein-thioesterase. Expand
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