115 citations
,
May 2016 in “Clinical Medicine & Research” This review discusses the complexities of interpreting thyroid function tests, highlighting the challenges primary care providers face due to patient demand and misinformation, but reports no new results.
305 citations
,
February 2007 in “Hormone and metabolic research” This review discusses the roles of androgens and estrogens in skin functions and disorders, and highlights the use of estrogen-progestin treatments and anti-androgens in managing hirsutism and acne, without reporting new results.
73 citations
,
April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that the vitamin D-VDR system is crucial for mineral and bone metabolism post-weaning and identified missense mutations in 1alpha-hydroxylase causing type I rickets.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
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.
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.
43 citations
,
February 2019 in “International immunology” This review examines the role of regulatory T cells in skin immune disorders, highlighting their unique functions in conditions like scleroderma, alopecia areata, and psoriasis, without reporting new clinical results.
14 citations
,
July 2010 in “British Journal of Dermatology” This report discusses the possibility that estrogens might play a greater role than androgens in female pattern hair loss, without presenting new research findings.
7 citations
,
June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
March 2010 in “Ejc Supplements” This study highlights a paradox where valproic acid, known for causing hair loss, may also promote hair growth when applied topically.
14 citations
,
April 2000 in “Animal Science/Animal science” This article explores how various nutrients and metabolic processes impact wool and hair follicle function in animals but reports no new experimental findings.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” This paper discusses X-linked ichthyosis and its genetic causes, focusing on biochemical pathways and their role in epidermal differentiation and barrier function, but it presents no new clinical findings.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
In this case study, ischemic stroke occurred in a 20-year-old male taking finasteride for hair loss, with multiple genetic predispositions for thrombosis; while causality is uncertain, clinicians should exercise caution when prescribing finasteride to patients with thrombotic risk factors.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
4 citations
,
August 2023 in “Biomedicine & Pharmacotherapy” This study found that in noise-exposed FVB/NJ mice and cell models, ivacaftor reduced oxidative stress and hearing damage by maintaining CFTR function and increasing Nrf2 expression, suggesting its potential for treating noise-induced hearing loss.
688 citations
,
June 2007 in “Cell Stem Cell” This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
303 citations
,
October 2000 in “Nature” This study found that RXRα plays a critical role in hair cycling and keratinocyte functions in mice, likely through its interaction with VDR in epidermal cells.
140 citations
,
April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice lacking the 1αOHase enzyme, which is responsible for producing a key vitamin D metabolite, showed impaired epidermal differentiation and delayed recovery of skin barrier function after disruption.
91 citations
,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
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.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.
37 citations
,
April 2010 in “FEBS Letters” In this study, researchers reported that the activation of EDA2R by p53 leads to p53-dependent cell death in cancer cells and is involved in chemotherapy-induced hair loss.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
15 citations
,
February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
13 citations
,
November 2009 in “Journal of Dermatological Science” This article discusses various dermatological studies cited by previous authors and reports no new clinical results.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.