October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
33 citations
,
December 1999 in “Journal of Investigative Dermatology Symposium Proceedings”
27 citations
,
May 2007 in “Archives of dermatological research” In this study, alopecia areata patients treated with diphencyprone showed a significant increase in CD8 lymphocytes around hair bulbs, which may be associated with hair regrowth.
January 2026 in “Biomaterials” 13 citations
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July 2009 in “Pediatrics in Review” This review discusses the diagnosis and treatment of 21-hydroxylase deficiency in congenital adrenal hyperplasia and emphasizes the need for earlier detection and proper management; it reports no clinical results.
107 citations
,
April 2014 in “The Plant cell” In this study, researchers showed that the CAP1 gene regulates root hair growth in plants by modulating cytoplasmic ammonium levels and maintaining calcium gradients, highlighting its role in ammonium homeostasis.
117 citations
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May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
July 2025 in “Journal of Investigative Dermatology” Hhip-Cre effectively targets dermal papilla cells for gene manipulation in hair biology.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
8 citations
,
March 2004 in “Mammalian genome” KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.
14 citations
,
January 2013 in “Hormone and Metabolic Research” This study found that in patients with nonclassical 21-hydroxylase deficiency, genotypes do not reliably predict the severity of hyperandrogenic symptoms, suggesting other genetic factors may influence the phenotype.
7 citations
,
January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
5 citations
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October 2022 in “Biology” This study found that CAP1 plays a significant role in reducing ammonium toxicity in Arabidopsis thaliana by promoting shoot growth and maintaining reactive oxygen species homeostasis.
January 2009 in “Hair transplant forum international” This abstract discusses maintaining patient-centered care in a busy clinic environment with a diverse workforce, providing an overview but reporting no new clinical results.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” This study found that homozygous mutant mice with a hypomorphic CD18 mutation developed a chronic inflammatory skin disease resembling human psoriasis, potentially implicating additional genetic factors in disease susceptibility.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
July 2010 in “Hair transplant forum international” This article discusses the first international certification examination by the American Board of Hair Restoration Surgery, with no new research findings reported.
February 2026 in “Psychoneuroendocrinology” Hair cortisol concentration partly reflects HPA axis regulation but doesn't capture all its complexities.
2 citations
,
July 2021 in “Biochemical and Biophysical Research Communications” This study found that plantar dermis matrix homogenate can partially restore the regenerative capacity of hair follicles impaired in culture, with CTHRC1 playing a critical role in this process.
This case study reports an unusual presentation of erosive lichen planus of the scalp linked to hepatitis C in a patient, highlighting challenges in establishing a definitive correlation between the two conditions.
April 2021 in “Journal of Investigative Dermatology” This trial found that intradermal injections of the Hair Stimulating Complex were well-tolerated and effectively stimulated hair growth and prevented hair loss in male pattern baldness participants over 18 weeks.
10 citations
,
May 2018 in “Cell death discovery” This study found that the interaction between heat shock protein 90 and lamin A/C is crucial for the growth, migration, and self-aggregation of dermal papilla cells, suggesting a potential role in alopecia areata mechanisms.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” This review discusses the challenges in diagnosing different causes of adult androgen excess and outlines current screening and management strategies but reports no new findings.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that DHHC13 is crucial for hair anchoring and skin barrier function, with its deficiency in Zdhhc13(skc4) mice leading to cyclic alopecia and skin abnormalities due to cornifelin deficiencies.
43 citations
,
May 1986 in “Clinics in Endocrinology and Metabolism” This review examines androgen status in male and female obesity and its influence on the metabolic syndrome, but reports no new clinical results.
1 citations
,
December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
October 2020 in “The American Journal of Gastroenterology” This case report highlights how a thorough history and examination led to the diagnosis of hereditary hemochromatosis in a patient initially suspected to have diverticulosis, improving symptoms with phlebotomy treatment.
December 2025 in “npj Breast Cancer” In the phase 3 CAPItello-291 trial, capivasertib combined with fulvestrant significantly increased progression-free survival in patients with advanced breast cancer with specific genetic alterations, but the authors highlight that managing side effects like diarrhea, rash, and hyperglycemia is crucial for optimizing treatment adherence and outcomes.