21 citations
,
April 1982 in “Genetics Research” In this study, researchers observed that mice with the naked gene showed frequent absence of hair cuticle and cortical cells during follicle growth, with abnormal keratin deposition also noted.
23 citations
,
February 2015 in “The American journal of pathology” This study found that the absence of sebaceous glands may be an early factor in the development of keratosis pilaris, leading to hair shaft and skin barrier abnormalities, independent of filaggrin mutations.
86 citations
,
January 1996 in “Clinics in dermatology” This review discusses the effects of protein-based cosmetics on hair properties and reports no new research findings, suggesting potential benefits for developing advanced, sustainable hair products.
June 2024 in “Annals of Medicine and Surgery” This case report highlights the rare co-occurrence of Pili Annulati and Trichorrhexis Nodosa in a Syrian woman, underlining the need for further research into their relationship and treatment.
69 citations
,
May 1997 in “Veterinary Pathology” This study found that the angora mouse mutation prolongs the anagen phase, resulting in excessively long hair and follicular abnormalities, without involving circulating hair cycle factors.
42 citations
,
September 1985 in “British Journal of Dermatology” This study found that trichothiodystrophic hair shows reduced and disoriented protein deposition in follicles, with both the cuticle and cortex affected, providing localized structural insights into keratin abnormalities.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.
9 citations
,
April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
August 2018 in “Pediatric Dermatology” This case report describes a unique instance of an otherwise healthy infant with phylloid terminal hair nevus, a form of hypomelanosis without extracutaneous abnormalities.
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.
11 citations
,
October 2011 in “Dermato-endocrinology” This study revealed that manual thyroid examinations in alopecia patients may uncover thyroid abnormalities undetectable by blood tests alone, but further research is needed to assess their clinical importance.
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
,
December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
October 2023 in “Research Review” This source describes the development, structure, and types of skin appendage tumors, noting both benign and malignant forms, potential associations with syndromes, and categories based on follicular differentiation.
86 citations
,
October 2013 in “Dermatologic Clinics” Trichoscopy is a useful non-invasive method for diagnosing different hair loss conditions.
January 2023 in “Annals of Dermatology” This study found that alopecia areata patients with a CCHCR1 gene variant had higher recurrence rates and structural abnormalities in hair compared to those without the variant.
31 citations
,
December 2010 in “Journal of the American Academy of Dermatology” This study reports that structural abnormalities in the inner root sheath of hair follicles may cause the hair shaft to be loosely attached in patients with loose anagen hair syndrome.
39 citations
,
November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study concluded that fatty acid transport protein 4 in epidermal keratinocytes is crucial for maintaining normal skin structure, as its deficiency led to hyperkeratosis and epidermal barrier disruption in mice.
5 citations
,
November 2015 in “International Journal of Radiation Biology” This study suggests that gamma-ray irradiation affects hair follicle density, structure, and pigmentation in mice, with some changes observed in later hair cycles.
44 citations
,
February 2012 in “The journal of neuroscience/The Journal of neuroscience” This study observed that Ptprq mutant mice exhibit significant abnormalities in hair bundle structure and vestibular dysfunction, suggesting similar issues may contribute to hearing loss and vestibular problems in humans with PTPRQ mutations.
3 citations
,
January 2021 in “Veterinary dermatology” This study describes a rare form of congenital alopecia in domestic short hair cats, characterized by hair shaft defects and follicular dystrophy similar to those seen in certain mutant mouse strains.
This study demonstrated that a ligand-independent action of the vitamin D receptor significantly affects keratinocyte behavior in hair follicles and skin, pointing to its crucial role in maintaining normal hair and skin structures in rats.
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.
14 citations
,
March 1995 in “Journal of cell science” This study found that targeting SV40 T antigen expression to hair follicles in transgenic mice caused abnormal hair structure and hair loss, but did not lead to cell immortalization or tumor formation in follicles.
7 citations
,
November 2014 in “Histochemistry and Cell Biology” This study found that mutant mice with the we/we wal/wal genotype exhibit significant defects in hair shaft structure and epidermis stratification, correlating with postnatal alopecia symptoms.
2 citations
,
January 1960 in “Australian Journal of Biological Sciences” The Naked gene in mice causes abnormal sebaceous glands and disrupts hair follicle organization.
198 citations
,
June 2013 in “Molecular psychiatry” This study found that schizophrenia-derived neurons exhibited impaired differentiation and mitochondrial dysfunction, suggesting a potential link between these factors and neurodevelopmental processes in schizophrenia.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
1 citations
,
August 1981 in “The Journal of Dermatology” This study reported that defects in the hair cuticle were found in every case of major structural hair abnormalities examined.
5 citations
,
October 2021 in “Signal Transduction and Targeted Therapy” In this study, structural and functional brain abnormalities specific to visuospatial and somatosensory processing networks were observed in patients with anorexia nervosa, highlighting a critical role for the precuneus.