1 citations
,
October 2023 in “Heliyon” In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
December 2025 in “Cureus” This case report highlights that scarring alopecia with features of dystrophic epidermolysis bullosa and lichen planopilaris can occur in patients with a COL7A1 mutation, emphasizing the need to recognize concurrent inflammatory causes.
June 2019 in “Pediatric Dermatology” This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.
3 citations
,
October 2011 in “JAT. Journal of applied toxicology/Journal of applied toxicology” This study found that finasteride was nongenotoxic in Drosophila, while doxazosin mesylate and saw palmetto induced homologous recombination, indicating potential genotoxic actions under the test conditions.
412 citations
,
January 1998 in “Science” This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.
402 citations
,
August 2011 in “Cancer research” This study found that castration-resistant prostate cancers resistant to CYP17A1 inhibitors may still depend on steroids and could respond to therapies targeting de novo intratumoral steroid synthesis.
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.
112 citations
,
August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
78 citations
,
October 2020 in “Experimental Dermatology” This review summarizes 15 years of clinical and experimental research advancements in hidradenitis suppurativa, highlighting its recognition as a uniquely healable inflammatory skin disease but reports no new clinical results.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
73 citations
,
December 2015 in “Nature Genetics” This study found that the Dun camouflage color in horses is due to TBX3 expression, which causes uneven pigment deposition, whereas non-dun coat colors result from regulatory mutations affecting TBX3 expression.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
50 citations
,
February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
43 citations
,
June 2018 in “Clinics in dermatology” This review discusses the variety of skin disorders associated with atopic dermatitis, exploring their complex relationships and shared genetic and environmental factors, but reports no new clinical results.
40 citations
,
December 2010 in “Human Genetics”
36 citations
,
October 1996 in “Dermatologic Clinics” In this study, a methanol extract of Eclipta alba was found to have dose-dependent hair growth-promoting activity in C57BL6 mice.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
25 citations
,
August 2006 in “Human Reproduction” This study found that the GGC repeat length significantly influenced testosterone levels in oral contraceptive users from high-risk breast cancer families, and homozygosity for short alleles may be linked to increased breast cancer risk.
23 citations
,
January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
20 citations
,
May 2016 in “Journal of Cosmetic Dermatology” This study suggests that lower serum and tissue vitamin D receptor levels in alopecia areata and androgenetic alopecia patients may play a role in the pathogenesis of these hair diseases.
13 citations
,
January 2023 in “Annual Review of Cancer Biology” This study suggests that cancer risk may be influenced by the balance of pro- and anti-oncogenic mutants in normal tissues rather than by the total number of mutations.
13 citations
,
February 2010 in “Stem Cell Reviews and Reports” Stem cells compete for space using cell adhesion, and mutations can affect their competitive success, with implications for tissue health and disease.
12 citations
,
September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
11 citations
,
July 2016 in “Current Opinion in Cell Biology” This review discusses stem cell behavior, highlighting their plasticity in tissue repair and the impact of somatic mutations on clonal expansion in early cancer, but reports no new experimental results.
11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
10 citations
,
March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.