7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
4 citations
,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
194 citations
,
May 2000 in “Journal of Investigative Dermatology” This study demonstrated that blocking the Sonic hedgehog signaling pathway in mice led to reversible inhibition of body coat hair morphogenesis, while whisker development was unaffected.
356 citations
,
September 2014 in “Journal of Clinical Research in Pediatric Endocrinology” This article discusses the rising prevalence and serious implications of childhood obesity and reports no new experimental findings; the authors emphasize the importance of prevention and early intervention through comprehensive management programs.
131 citations
,
March 2004 in “The American journal of pathology” This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.