57 citations
,
July 2005 in “Genetics” In this study on Drosophila wings, researchers identified 435 genes with significant expression changes during wing hair morphogenesis, and found new phenotypes for 9 genes through functional validation.
49 citations
,
January 2003 in “American Journal of Clinical Dermatology” This review discusses various pediatric hair loss conditions and treatments, highlighting the importance of a holistic approach and noting that no single treatment is universally effective.
33 citations
,
March 2006 in “Seminars in cutaneous medicine and surgery” This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.
25 citations
,
January 2013 in “International Journal of Trichology” In this study, decreased levels of SHBG and a high free androgen index were observed in men with severe premature baldness compared to controls, but this condition was not equivalent to PCOS or metabolic syndrome in females.
19 citations
,
April 1995 in “Clinical Genetics” This report describes two siblings with a new familial association of loose anagen syndrome and ocular coloboma, despite unaffected parents and no family history.
11 citations
,
March 2001 in “Clinics in Dermatology” This article discusses the complexities in diagnosing hair shaft disorders and the potential insights hair microscopy can provide, without reporting new clinical findings.
8 citations
,
March 1979 in “International Journal of Dermatology” Dr. Vera H. Price's 1979 work emphasizes the importance of accurate diagnosis and personalized treatment for hair loss.
7 citations
,
December 2008 in “Expert Review of Dermatology” This article reviews hair and nail disorders in children, emphasizing their prevalence, congenital and acquired origins, and the diagnostic challenges compared to treatment, but reports no new clinical results.
1 citations
,
January 2020 This study found that Ift20 is essential for hair follicle stem cell identity and hair regrowth, and it regulates keratinocyte migration during wound healing through focal adhesion integrin recycling, independently of ciliogenesis.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
January 2020 in “Asian Journal of Basic Science & Research” This review discusses the role of Nutrease powder in managing hormonal disturbances in polycystic ovary syndrome and reports no new clinical results.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
126 citations
,
January 1987 in “Journal of The American Academy of Dermatology” This article reviews the classification of hair shaft abnormalities, outlining their diagnostic features, but does not present new research findings.
8 citations
,
January 1996 in “Springer eBooks” This article discusses the minimal research on hair growth physiology and highlights Dr. Masumi Inaba's contributions to understanding androgenetic alopecia, but reports no new experimental results.
October 2025 in “HAL (Le Centre pour la Communication Scientifique Directe)” This research observed that, in domestic cats like Maine Coon and Rex breeds, a "piebald" coat color pattern is likely influenced by the Silver locus, although the specific mutations involved are yet to be published.
June 2023 in “Deleted Journal” This study found that all healthy cats tested were carriers of *Microsporum canis*, and 86.66% of dogs carried this fungus, with further positive cultures for other dermatophytes and yeasts suggesting these animals may contribute to environmental fungal spread.
January 2026 in “Clinical Case Reports” This case report describes a 6-year-old girl diagnosed with the rare concurrence of monilethrix and trichorrhexis nodosa, characterized by sparse, brittle hair, who showed minimal clinical improvement with low-dose oral and topical minoxidil treatment.
January 2016 in “Case reports in clinical medicine” This article discusses monilethrix in a 6-year-old girl, explores various aspects of the disease, and its treatment, but reports no new clinical results.
12 citations
,
January 2013 in “Indian Journal of Dermatology” This case report on a 13-year-old boy with monilethrix observed slight improvement after a two-month trial of oral N-acetyl cysteine, but overall hair density did not improve further.
48 citations
,
January 2005 in “Treatments in Endocrinology” 13 citations
,
July 2004 in “Pediatric dermatology” This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
185 citations
,
December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
4 citations
,
July 2019 in “Clinics in Dermatology” This article reviews various "white diseases" characterized by hypopigmentation or depigmentation and emphasizes the role of melanosomes in skin and eye color, but it does not present new clinical results.
2 citations
,
January 2014 in “Indian Journal of Critical Care Medicine” This report describes a 38-year-old female diagnosed with autoimmune polyendocrine syndrome Type II after presenting with shock.
This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
July 2023 in “Journal of Biomedical Science” In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.