June 1996 in “Irish Journal of Medical Science (1971 -)” This study found a statistically significant increase in glycosylated hemoglobins among patients with adult-acquired panhypopituitarism undergoing long-term GH replacement therapy, with two developing diabetes requiring treatment.
37 citations
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August 2015 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that in a mouse model with hereditary 1,25-dihydroxyvitamin D resistant rickets, a mutant vitamin D receptor lacking hormone-binding ability could restore normal hair cycling and affect parathyroid hormone regulation.
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.
7 citations
,
August 2020 in “Genes” This study mapped gene expression in different skin structures of dogs, finding similarities to humans that support using dogs as models for human skin diseases.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
June 2018 in “Journal of the American Veterinary Medical Association” Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
71 citations
,
February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
26 citations
,
July 2019 in “Dermatology and Therapy” This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.
21 citations
,
March 2018 in “American Journal Of Pathology” In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
This study analyzed scalp hair proteins from healthy children and their mothers, finding that non-structural proteins could serve as promising biomarkers for understanding long-term developmental changes and health status linked to early childhood experiences.
22 citations
,
July 1998 in “Journal of Investigative Dermatology” This study identified and characterized a gene called 4C32, which is expressed in the periderm of embryonic mouse skin and has a structure similar to keratin-associated proteins.
86 citations
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June 1998 in “Journal of Investigative Dermatology” This study found that mutations in the hairless gene in mice disrupt hair follicle integrity during catagen, leading to baldness due to disintegrating epithelial structures and loss of normal dermal papilla.
276 citations
,
April 2003 in “Molecular endocrinology” This review explores the diverse physiological roles of the vitamin D endocrine system, discussing current research on receptor structure, transcription details, murine models, and alternative receptors, but reports no new findings.
April 2026 in “Diagnostics” In this case report, a 38-year-old woman with Parry–Romberg syndrome displayed left-sided facial atrophy and subclinical central nervous system involvement detectable by neuroimaging, suggesting that even symptom-free cases may benefit from systematic brain evaluations.
October 2024 in “Cosmetics” This review highlights the lack of research on Afro-textured hair, emphasizing the need for better understanding of its genetic traits and molecular structure to develop more effective hair care solutions.
35 citations
,
April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
52 citations
,
April 2012 in “Journal of Investigative Dermatology” This study found that KRTAP2 proteins predominantly express in the hair shaft cortex of humans, interact with hair keratins, and play crucial roles in hair shaft keratinization.
84 citations
,
April 2002 in “Archives of Dermatology” This study found that a keratin mutation may cause diffuse partial woolly hair associated with loose anagen hair syndrome in some families, but other genetic factors could play a role in different cases.
December 2024 in “Medical Review” This review examined the role of organoid technology in modeling genetic diseases, highlighting its promise for understanding disease pathology and developing tailored treatments by integrating genetic insights with advancements in regenerative medicine and biological engineering.
February 2022 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This review discusses the classification and diagnosis of hair shaft disorders based on fragility and emphasizes preventive care due to the lack of specific treatments.
October 2025 in “Frontiers in Artificial Intelligence” This study evaluated a novel, user-friendly approach for detecting hairfall trends over time using machine learning models. The Temporal Fusion Transformer model demonstrated high accuracy in identifying anomalies in hair shedding patterns, potentially aiding in the early detection of health risks related to hormonal fluctuations.
18 citations
,
April 2010 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This research suggests that the vitamin D receptor may regulate hair follicle cycling and provide genoprotection against skin carcinogenesis through a mechanism independent of 1,25-dihydroxyvitamin D3, based on evidence from mouse models.
151 citations
,
August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
17 citations
,
March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that overexpression of the hairless protein in Hr mutant mice disrupts inner root sheath formation by downregulating Dlx3 and associated keratins in hair follicle development.
In this study, researchers identified that the oncomodulin protein lineage, specifically the gene pvalb8, plays a crucial role in the development and function of auditory hair cells in zebrafish by promoting cell proliferation through the Wnt signaling pathway.
April 2015 in “Our Dermatology Online” This report presents a case of acrodermatitis enteropathica in a 22-year-old female, highlighting the absence of underlying comorbid conditions.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
13 citations
,
January 2002 in “Clinics in dermatology” This study found that AHCC supplementation significantly reduced alopecia severity in Ara-C treated rats and mitigated liver injury-related side effects in mice treated with 6-MP and MTX.
160 citations
,
June 2008 in “American Journal Of Pathology” This review discusses the effects of the epidermal growth factor receptor system on skin biology and pathology, relying on animal models to analyze roles in cellular processes, wound healing, and tumorigenesis, but reports no new results.