41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
39 citations
,
January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
33 citations
,
November 2006 in “Survey of Ophthalmology” This report discusses the various causes and clinical assessment of madarosis, emphasizing the importance of recognizing and diagnosing associated vision or life-threatening conditions, without presenting new findings.
27 citations
,
August 2014 in “Wiley interdisciplinary reviews. Developmental biology” This review highlights similarities in the development of thymus and skin epidermis, reporting no new results; the authors emphasize shared molecular mechanisms despite different embryonic origins.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
16 citations
,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” This review explores new theories, diagnostic tools, and management strategies for primary cicatricial alopecia but reports no new clinical findings.
16 citations
,
July 2012 in “Current pharmaceutical biotechnology” This review discusses the pathogenesis of common sebaceous gland diseases and their molecular pathways, but it reports no new clinical findings.
11 citations
,
October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
9 citations
,
March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
4 citations
,
September 2004 in “Experimental Dermatology” This review discusses the role of connexin mutations in various human disorders, highlighting their impact on ectodermal epithelial phenotypes like hearing loss and skin abnormalities, but it presents no new clinical findings.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
1 citations
,
April 2023 in “African Scientific Reports” This review summarizes the biological process of melanogenesis and evaluates natural skin-whitening treatments based on their mechanisms affecting melanin production, aiming to inform on the effects and awareness of skin-bleaching creams.
1 citations
,
January 2016 in “Dermatology Review” This review discusses the potential role of vitamin D supplementation as a therapeutic option for alopecia areata due to its immune-regulating effects and reports no new clinical results.
March 2015 in “Zagazig University Medical Journal” The study found that CK15 expression, representing hair follicle stem cell activity, was reduced or absent in scarred primary cicatricial alopecia lesions, suggesting stem cell damage may contribute to the scarring process.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
35 citations
,
November 1931 in “Journal of Genetics” Hairless mice lack fur due to a genetic mutation affecting skin response, not hormone issues.
23 citations
,
February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
21 citations
,
November 2009 in “Dermatologic Clinics” This review discusses hair abnormalities in various epidermolysis bullosa subtypes and reports no new clinical findings.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” This study observed phenotypic diversity in hair loss among Japanese individuals homozygous for the LIPH c.736T>A mutation and suggests that differences in hair thickness may contribute to varying severities.
2 citations
,
April 2025 in “Frontiers in Genetics” This study investigated the genetic basis of coat color variation in cattle using skin transcriptome and whole-genome analyses, identifying the ASIP gene as a significant determinant that is differentially expressed and under strong positive selection in black and brown cattle breeds.
1 citations
,
January 2016 in “Elsevier eBooks” This review examines the origins and mechanisms of tumor initiation in common skin cancers, but does not present new experimental findings; it emphasizes the need for further research on cancer stem cells.
September 2020 in “Acta Scientific Cancer Biology” This case report describes how personalized treatment based on Encyclopedic Tumor Analysis successfully led to durable regression in a woman with advanced pilomatrical carcinoma, unresponsive to standard care.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
1308 citations
,
March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
211 citations
,
April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
64 citations
,
September 2006 in “International journal of epidemiology” This article discusses a proposed "Darwinian" model of carcinogenesis and emphasizes that cancer prevention involves more than avoiding mutagens, as gene-environment interactions are complex and non-linear.
54 citations
,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” This chapter reviews keratins in skin epithelia, including their roles in cellular function and disease, and reports no new experimental results.
51 citations
,
January 2007 in “Animal Genetics” This study identified the location of the genetic locus for the slick hair coat trait in cattle on bovine chromosome 20, which may contribute to heat tolerance.