21 citations
,
March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
May 2025 in “International Medical Case Reports Journal” This case report highlights lichen planus pigmentosus in a 60-year-old man, which was linked to previously undetected hepatitis C infection and liver cirrhosis, suggesting a need for hepatitis C testing in patients with similar dermatological manifestations.
8 citations
,
December 2017 in “Small Ruminant Research” This study reports that variation in the ovine TCHH gene may influence wool fibre curvature, with specific gene variants affecting the mean fibre curvature in sheep.
June 2015 in “Obstetrics, gynaecology and reproductive medicine” This article reviews the causes, physiology, and treatment strategies for hirsutism in women, highlighting that effective management often requires addressing underlying conditions and may involve lifestyle changes and pharmacological interventions.
9 citations
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July 2011 in “Scientific Reports” This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.
19 citations
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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.
April 2025 in “The Obstetrician & Gynaecologist” This study highlights that hirsutism in women, most commonly caused by polycystic ovary syndrome, should be evaluated with tools like the Ferriman–Gallwey score and total testosterone measurements, and managed using methods like hair removal and combined oral contraceptives when fertility preservation is not a priority.
4 citations
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February 2019 in “Journal of Cutaneous Pathology” This study suggests that the epigenetic marker 5-hmC may dynamically influence hair follicle bulge activation during anagen growth in mice, warranting further investigation into its role in stem cell regulation.
9 citations
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November 2015 in “Gynecological Endocrinology” This study found that among different subtypes of PCOS based on Rotterdam criteria, group A showed higher androgen levels and hirsutism, while all subtypes had increased LH and LH/FSH compared to controls.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.
19 citations
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March 2008 in “Nature clinical practice endocrinology & metabolism” A combined drug and laser treatment improved hirsutism in a PCOS patient, also enhancing her heart health and requiring regular liver and kidney checks.
16 citations
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August 2002 in “Journal of Interferon and Cytokine Research” In this case study, hypertrichosis in a patient with hemophilia and hepatitis C may have been induced by IFN-alpha treatment, despite the drug usually causing hair loss.
7 citations
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July 2008 in “Experimental Dermatology” This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
15 citations
,
May 2017 in “Journal of Cellular Biochemistry” This review discusses the role of the hairless protein (HR) in alopecia and cancer, noting its potential importance in cancer cell growth and survival, and reports no new experimental results.
7 citations
,
February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
April 2023 in “Journal of Investigative Dermatology” This study found that human TMEM2 does not function as a hyaluronidase but is involved in regulating hyaluronan metabolism.
July 2011 in “Oxford University Press eBooks” This chapter reviews the causes, diagnosis, and treatment of hirsutism and related androgen excess conditions in women, presenting no novel clinical findings.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.
37 citations
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August 2012 in “European Journal of Obstetrics & Gynecology and Reproductive Biology” In this study, a modified Ferriman-Galwey score greater than 4 was found to be effective for diagnosing hirsutism in Asian women, highlighting key areas such as the upper lip, thighs, and lower abdomen.
7 citations
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December 2011 in “InTech eBooks” This review discusses current and evolving treatment strategies for congenital adrenal hyperplasia in adolescents and adults, focusing on glucocorticoid and mineralocorticoid therapy and the management of insulin resistance, without reporting new clinical results.
January 2006 in “Advances in developmental biology” This review discusses the roles of the hairless (HR) protein as a corepressor, particularly its impact on RORα-mediated transcriptional repression, and reports no new experimental findings.
11 citations
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January 2015 in “Journal of cellular physiology” This study suggests that abnormal hair cycles in Hr mutant mice may be caused by HR protein overexpression, which down-regulates miR-31 and increases Tgf-β2 expression.
6 citations
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July 2017 in “Biochemical and Biophysical Research Communications” This study found that mutations in the hairless gene disrupt normal hair follicle development by impairing Wnt/β-catenin signaling, affecting hair keratinocyte differentiation in both mice and humans.
June 2016 in “The Egyptian Journal of Fertility and Sterility” This review discusses strategies for managing hirsutism in PCOS, highlighting lifestyle changes, hormonal treatments, and the importance of patient-centered care, but reports no new clinical results.
8 citations
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May 1991 in “PubMed” This case study from Boston University details a 35-year-old woman diagnosed with congenital adrenal hyperplasia, treated with dexamethasone, leading to normalized androgen levels and successful conception.
15 citations
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January 1992 in “Sen'i Gakkaishi” This study suggests that the cell membrane complex in hair cuticles contains hydrophilic regions with disulfide bonds allowing polymer uptake and hydrophobic lamella-like lipid layers.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.
19 citations
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June 2020 in “General and comparative endocrinology” This study found that hair cortisol concentration is a promising stress indicator in cattle but not in pigs, where external factors and lower cortisol response may interfere with its validity.
April 1981 in “Pediatric research” This study found that abnormal liver and kidney copper metabolism in Br females had no clinical effects, whereas defective brain copper metabolism in Br males was clinically significant.
130 citations
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October 2006 in “Allergy” This review discusses hypersensitivity reactions to anticoagulants, highlighting the importance of early diagnosis and exploring various diagnostic and management options, but it presents no new clinical findings.