21 citations
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December 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that T-cell responses in extensive alopecia areata scalp may be aberrantly regulated, with reduced cytokine production but activated phenotype, providing insight into the disease's immune mechanisms.
19 citations
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August 2013 in “Facial Plastic Surgery Clinics of North America” This article discusses the evolution and variation of hairlines in men and women across different ages, introducing a modeling system to standardize the anatomical description of hairlines, without reporting new experimental findings.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
11 citations
,
April 1993 in “PubMed” In this study, trichocytes were shown to have potential for alternative differentiation, with mesenchymal cell influences playing a critical role in determining this process.
1 citations
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November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced a new high-throughput method for analyzing scalp hair morphology and found that quantifying hair form provides more accurate information than traditional classification based on racial categories, challenging the belief that cross-sectional morphology predicts hair curvature.
June 2026 in “International Journal of Medical Science and Dental Health” In this study, researchers found that women with Type 2 Diabetes Mellitus and hair loss had significantly lower levels of ferritin, zinc, and vitamin D compared to men, and constructed a validated risk score to predict severe nutrient deficiencies in these patients.
October 2023 in “Dermatology practical & conceptual” In this case report, folliculitis decalvans with frontal fibrosing alopecia was observed in a patient with a dark phototype, highlighting the phenotypic spectrum of folliculitis decalvans and lichen planopilaris.
January 2023 in “Türkiye klinikleri adli tıp ve adli bilimler dergisi” This review discusses forensic DNA phenotyping, focusing on male pattern baldness and its prediction through SNP markers, but reports no new results.
April 2015 in “Dentistry 3000” This article explores the causes and associated syndromes of premature hair hypopigmentation, emphasizing a need for better understanding to guide individual patient education and treatment.
184 citations
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August 1983 in “The journal of pediatrics/The Journal of pediatrics” In this study, biotinidase deficiency in children usually presented with neurological or skin symptoms, while metabolic ketoacidosis and organic aciduria appeared later.
25 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.
21 citations
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May 2023 in “The Journal of Allergy and Clinical Immunology In Practice” 3 citations
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January 2025 in “动物学研究” This study used high-resolution imaging and genetic analysis to investigate hair density in the Dazu black goat, identifying key genes like GJA1 and GPRC5D involved in follicle development and maintenance, and highlighted their role in animal hair density regulation.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
2 citations
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January 2025 in “Veterinary Dermatology” This study found that Pomeranian dogs with a woolly coat type and male dogs had a higher risk of developing Alopecia X in the Netherlands and Belgian regions studied.
August 2026 in “International Journal For Multidisciplinary Research” This case report suggests that a comprehensive phase-wise Unani therapeutic approach may improve multiple clinical, hormonal, and metabolic outcomes in a young woman with Polyendocrine Metabolic Ovarian Syndrome.
August 2026 in “Animal Genetics” In this study, researchers analyzed hair follicle development in Yongqing Rex rabbits, finding dynamic changes in fur thickness, coat density, and hair structure across 1 to 6 months, along with fluctuations in follicle density and gene expression linked to hair growth and quality.
June 2026 in “International Journal of Advanced Biochemistry Research” In this study, non-dermatophyte moulds, particularly Aspergillus and Penicillium species, were phenotypically characterized in dogs and cats with suspected mycotic dermatitis, revealing their potential role in dermatological disorders among companion animals and emphasizing the importance of conventional mycological identification techniques.
May 2024 in “Indian journal of animal sciences/Indian Journal of Animal Sciences” In this study, researchers collected and analyzed morphometric data from 207 Janwal Pashmi dogs in Maharashtra, finding distinct physical traits such as color and ear length, with adult males generally larger in several traits compared to females.
This study found that in Chinese Alashan Left Banner White Cashmere goats, guard hair length was positively correlated with guard hair diameter and down fiber length, but not with body weight at first combing.
125 citations
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August 2003 in “Development” In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.
120 citations
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June 2008 in “American Journal of Epidemiology” This study reported a 6.3% prevalence of PCOS among women in a Sri Lankan community, with most cases presenting as oligo/amenorrhea and polycystic ovaries.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.
75 citations
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April 2000 in “Developmental Dynamics” This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.
69 citations
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January 2005 in “The Journals of Gerontology Series A” This study suggests that short telomeres may produce similar aging-related symptoms across different segmental progeroid syndromes, offering potential insights into normative aging processes.
50 citations
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April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
39 citations
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April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
35 citations
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April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
32 citations
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January 2012 in “Clinical & Developmental Immunology” In this study, rheumatoid arthritis patients showed no changes in the number of circulating follicular helper T cells, but these cells had increased CD200 expression, implicating them in disease pathogenesis and suggesting CD200/CD200R as a potential therapeutic target.
29 citations
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January 2021 in “G3 Genes Genomes Genetics” This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.