1 citations
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January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
11 citations
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January 2022 in “Experimental Dermatology” This study suggests that patients with severe, extensive central centrifugal cicatricial alopecia may exhibit a distinct gene expression pattern in the lesional scalp, highlighting potential targets for future research on disease severity and therapies.
1 citations
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April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that topical patidegib gel significantly shrank basal cell carcinomas in Gorlin syndrome patients without causing the systemic side effects common with oral hedgehog inhibitors.
7 citations
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November 2017 in “Cureus” This report introduces a new potential sign, paired ear creases of the helix, which may have relevance to cardiovascular disease similar to diagonal ear lobe creases, in a case of coronary artery disease.
378 citations
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November 2011 in “Human reproduction update” This review discusses the epidemiology, causes, diagnosis, and management of hirsutism in women, noting that effective treatment requires addressing the root cause as well as the hair growth.
175 citations
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September 1998 in “British Journal of Dermatology” This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.
7 citations
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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.
21 citations
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October 2013 in “Molecular Biology of the Cell” This study found that the protein CCN2 in dermal papilla cells is a physiologically relevant suppressor of hair follicle formation by destabilizing β-catenin, which may help maintain stem cell quiescence.
August 2019 in “Anais Brasileiros de Dermatologia” This article reviews the case of a patient diagnosed with basal cell nevus syndrome and reports no new research findings.
This study introduced the C-CAT, a new assessment tool for central centrifugal cicatricial alopecia, and found that established treatments improved symptoms in most patients over six months.
13 citations
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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.
30 citations
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June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” This review discusses the pathophysiology, genetics, and management of nonclassic congenital adrenal hyperplasia, noting subfertility and hormonal issues without providing new clinical results.
March 1998 in “Journal of dermatological science” Diphencyprone initially increases mouse hair growth, then slows it, possibly due to changes in specific protein levels.
September 2021 in “Selçuk Üniversitesi Tıp Fakültesi dergisi” This abstract discusses the dermatological symptoms associated with hepatitis C virus infections but reports no new research findings.
64 citations
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May 2003 in “Journal of health psychology” This study found that women with PCOS reported higher overall psychological distress, but there was no significant link between their perceived hirsutism and this distress.
2 citations
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October 2021 in “Journal of Mind and Medical Sciences” This review discusses the role of HPV vaccination and early screening in reducing cervical cancer incidence but reports no new clinical results.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
1 citations
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September 2023 in “Frontiers in Genetics” This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.
3 citations
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June 2015 in “CRC Press eBooks” This article discusses the genetic and hormonal factors contributing to male pattern hair loss but reports no new experimental results.
15 citations
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November 2012 in “Archives of Ophthalmology” This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
January 2025 in “Case Reports in Medicine” In this case study, a diagnosis of HAIR-AN syndrome, a rare form of polycystic ovarian syndrome, was made in a 17-year-old female with hyperandrogenism, insulin resistance, and acanthosis nigricans, but genetic screening revealed no significant mutations linked to her symptoms.
10 citations
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August 2010 in “Hereditas (Beijing)” This review summarizes the role of Hoxc13 in regulating hair follicle development and growth, noting its influence on keratin and keratin-associated proteins, and reports no new experimental findings.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that Myelin Protein Zero-like 3 plays a crucial role in hair follicle cycling by regulating anagen and catagen phases, mediated through mitochondrial signaling mechanisms in both human and murine hair follicles.
3 citations
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January 2023 in “International Journal of Molecular Sciences” This review summarizes current knowledge on the role of heat shock proteins in the pathogenesis of PCOS and their potential implications in developing new treatment strategies, but it reports no new experimental results.
2 citations
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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.
66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers observed significant metabolic dysregulation in central centrifugal cicatricial alopecia, particularly involving lipid metabolism and the downregulation of AMPK-related genes.
December 2016 in “Asian Pacific journal of cancer biology” This paper discusses the importance of early diagnosis and treatment of polycystic ovarian syndrome to potentially reduce long-term complications like diabetes, hypertension, and heart disease, but reports no new clinical outcomes.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
48 citations
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August 1998 in “Developmental Biology” In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.