56 citations
,
April 2015 in “American journal of medical genetics. Part A” This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.
141 citations
,
February 1988 in “Molecular and Cellular Biology” This study found that despite strong homology between two K16 genes, only one encoded a functional protein that assembled into keratin filaments in epithelial cells, possibly due to promoter strength differences.
53 citations
,
August 2019 in “American journal of human genetics” This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
This study provides genomic and epigenomic insights into the white wax scale insect, highlighting high methylation levels and differential hormone profiles linked to its sexual dimorphism and developmental differences.
9 citations
,
November 2021 in “Frontiers in Cell and Developmental Biology” This study found that PBX1 overexpression reduces hair follicle-derived mesenchymal stem cell senescence and apoptosis by alleviating ROS-mediated DNA damage, rather than enhancing DNA repair.
75 citations
,
January 2003 in “Journal of Investigative Dermatology”
3 citations
,
June 2020 in “Developmental Cell” This study observed that in chicken skin, large-scale differences in gene expression between feathered and scaly skin are controlled by enhancer-driven uniform expression, while small-scale differences within individual feathers are associated with chromatin looping.
22 citations
,
October 2004 in “Journal of Investigative Dermatology” This study identified the rough coat mutation in mice, but found that LOXL is not the causal gene, although its downregulation might contribute to related phenotypic changes.
27 citations
,
January 2000 in “Developmental Dynamics” This study reports that a new nude allele, nu(StL), encodes a truncated Whn transcription factor affecting T-cell development and keratin gene expression, with notable differences from the original Whn(nu) mutation.
July 2016 in “Cancer research” This study found that mutant cells in hair follicles can be tolerated or eliminated by surrounding normal tissue, suggesting the potential for wild-type cells to counteract oncogenic mutations.
93 citations
,
June 2011 in “Journal of Neuroscience” This study found that the transcription factor p63 is crucial for horizontal basal cell differentiation in the olfactory epithelium, suggesting a p63-dependent mechanism activates reserve stem cells after injury.
32 citations
,
July 2018 in “FEBS letters” In this study, researchers identified the CBL1-CIPK26 Ca 2+ sensor-kinase complexes as key modulators of the NADPH oxidase RBOHC crucial for root hair differentiation in plants.
3 citations
,
September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
80 citations
,
June 1997 in “The American Journal of Human Genetics”
32 citations
,
February 2008 in “Developmental dynamics” This study indicates that the Sp6 gene is crucial for the development of skin, teeth, limbs, and lungs in mice, possibly through regulating apoptosis.
2 citations
,
September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that Dlx3 plays a crucial role in regulating chromatin accessibility and gene transcription during keratinocyte differentiation in the epidermis, highlighting its potential impact on epidermal barrier formation and differentiation.
65 citations
,
September 2004 in “The American journal of pathology” This study found that overexpressing the BMP inhibitor Noggin in transgenic mice led to a significant loss of nontylotrich hair follicles, suggesting a critical role for BMP signaling in hair follicle morphogenesis and cycling.
193 citations
,
May 2008 in “Development” This study found that activating β-catenin signaling in embryonic epidermis promoted hair follicle characteristics at the expense of normal epidermal differentiation, leading to early pigmentation and innervation.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
7 citations
,
July 2024 in “Animals” In this study, the researchers observed that higher expression of the Sonic hedgehog gene in cashmere goats' hair follicle cycles is associated with increased cell proliferation and reduced apoptosis, suggesting its role in enhancing cashmere quality.
7 citations
,
December 2007 in “Poultry Science” In this study, beta-catenin expression was found to be significant in embryonic goose skin during early feather bud development, with patterns similar to Shh expression, suggesting its importance in normal development.
113 citations
,
May 2002 in “PubMed” This study observed that COX-2 overexpression in transgenic mice led to a significant reduction in skin tumor development compared to controls, challenging the expected role of COX-2 in promoting tumors.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
158 citations
,
November 1998 in “Cell” β-catenin affects hair growth and can lead to tumors, needing more research for better understanding.
39 citations
,
October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
January 2016 in “Memorial University Research Repository (Memorial University)” This study suggests that hereditary hyperplastic gingivitis in silver foxes may involve the MAPK signaling pathway, with potential androgen effects influencing disease severity.