39 citations
,
July 1997 in “American Journal of Medical Genetics” This study confirmed linkage of Clouston syndrome in a large Indian family to the 13q11-12.1 region, suggesting it shares a genetic basis with French Canadian cases.
37 citations
,
January 1993 in “Journal of Investigative Dermatology” 10 citations
,
August 2010 in “Hereditas (Beijing)” This review summarizes the role of Hoxc13 in regulating hair follicle development and growth, noting its influence on keratin and keratin-associated proteins, and reports no new experimental findings.
January 2026 in “Journal of Dermatological Science” This study suggests that DcR3 can reprogram macrophages towards a reparative state, enhancing wound healing and hair follicle regeneration, making it a potential target for treating chronic wounds and alopecia.
2 citations
,
October 2023 in “Philosophical transactions - Royal Society. Biological sciences” This article reports that mutations in the PADI3 gene, affecting its activity or localization, cause uncombable hair syndrome and are linked to central centrifugal cicatricial alopecia, particularly among women of African ancestry.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
6 citations
,
December 2021 in “Scientific Reports” This study found that inhibiting class I histone deacetylases in postnatal mouse dermal cells preserved their ability to induce hair follicles during culture by increasing specific gene expressions and activating the Wnt signaling pathway.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
79 citations
,
March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
7 citations
,
January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
3 citations
,
January 2022 in “Burns & Trauma” This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.
1 citations
,
September 2014 in “Hormones” This review discusses the manifestations of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency across different life stages, but reports no new findings.
16 citations
,
September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.
178 citations
,
October 2001 in “Genes & Development” This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
January 2026 in “Journal of Clinical and Investigative Dermatology” This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.
July 2024 in “PLANT PHYSIOLOGY” In this study on Arabidopsis, the researchers identified CIPK13 and CIPK18 as crucial genes for root hair growth, finding that deficiencies in these genes resulted in shorter root hairs and reduced growth rates due to altered calcium oscillations.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
48 citations
,
January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.
25 citations
,
November 2020 in “Proceedings of the National Academy of Sciences” This study found that the HoxC gene cluster plays a critical role in the development of ectodermal organs, including hair and nails, with mammalian-specific enhancers increasing transcription levels during development.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.
65 citations
,
March 2004 in “Journal of Clinical Investigation” In this study, overexpression of ornithine decarboxylase accelerated basal cell carcinoma in Ptch1+/– mice under UVB exposure, while its inhibition reduced tumor induction, suggesting potential chemoprevention strategies in humans.
317 citations
,
August 1997 in “The Plant Journal” This study observed that while calcium influx does not initiate root hairs in Arabidopsis thaliana, it may be crucial for sustaining their elongation through elevated calcium levels at the root hair tip.
24 citations
,
January 2018 in “Development” This study found that Frizzled genes Fzd3 and Fzd6 are redundantly involved in controlling hair follicle polarity in mice, but operate through distinct mechanisms, highlighting their complex role in hair orientation.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
63 citations
,
April 2005 in “Mechanisms of development” This study found that heterozygous mice overexpressing Claudin-6 experienced alterations in epidermal and hair follicle differentiation, leading to distinctive coat characteristics and a disrupted epidermal permeability barrier.
6 citations
,
June 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that human centromeric regions exhibit large-scale haplotypes with significant diversity, including entire Neanderthal haplotypes, which may affect chromosome transmission.
2 citations
,
January 2020 in “Evidence-based Complementary and Alternative Medicine” This study found that Hataedock may alleviate atopic dermatitis symptoms in mice by maintaining skin homeostasis and improving skin barrier formation through the endocannabinoid system.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.