Share This Author
Rfx6 Directs Islet Formation and Insulin Production in Mice and Humans
It is shown that the transcription factor Rfx6 directs islet cell differentiation downstream of Neurog3, a unique position for RFX6 in the hierarchy of factors that coordinate pancreatic islet development in both mice and humans.
Deficient host-bacteria interactions in inflammatory bowel disease? The toll-like receptor (TLR)-4 Asp299gly polymorphism is associated with Crohn’s disease and ulcerative colitis
A novel association of the TLR4 Asp299Gly polymorphism with both Crohn’s disease and UC is reported, which further supports the genetic influence of PRRs in triggering IBD.
WDR62 is associated with the spindle pole and is mutated in human microcephaly
In human and mouse embryonic brain, it was found that WDR62 expression was restricted to neural precursors undergoing mitosis, lending support to the hypothesis that the exquisite control of the cleavage furrow orientation in mammalian neural precursor cell mitosis is critical both in causing MCPH when perturbed and, when modulated, generating the evolutionarily enlarged human brain.
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
In conclusion, mutations in RASA1 underscore the specific CM–AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs, and the high incidence of fast‐flow lesions warrants careful clinical and radiologic examination, and regular follow‐up.
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
The data indicate that TRPS III is at the severe end of theTRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene.
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Bioinformatic analysis reveals that the MR-1 gene is homologous to the hydroxyacylglutathione hydrolase (HAGH) gene, which functions in a pathway to detoxify methylglyoxal, a compound present in coffee and alcoholic beverages and produced as a by-product of oxidative stress.
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
This study shows that, in humans, lack of accurateFGFR1 activation can disrupt both brain and hand/foot midline development, and that FGFR1 loss-of-function mutations are responsible for a wider spectrum of clinical anomalies than previously thought.
Protein-truncating mutations in ASPM cause variable reduction in brain size.
P phenotypic variation in the 51 affected individuals occurred in the degree of microcephaly and of mental retardation but appeared independent of mutation position, and mutations occurred throughout the ASPM gene and were all predicted to be protein truncating.
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.
- Laurent Meeus, B. Gilbert, G. Vassart
- Medicine, BiologyThe Journal of clinical endocrinology and…
- 1 September 2004
Results indicate that loss of function mutations of the PAX8 gene may cause congenital hypothyroidism in the absence of thyroid hypoplasia.
Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
The data provide strong evidence for CASC5 as a novel MCPH gene, and underscore the role of kinetochore integrity in proper volumetric development of the human brain.