1 citations
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May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
April 2012 in “The Journal of Urology” This case-control study found that men with earlier onset androgenetic alopecia, particularly frontal balding, may have an increased risk of prostate cancer in a multiethnic veterans cohort.
1 citations
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April 2023 in “International journal of molecular sciences” In this study, AMACO was found to be non-essential for the formation or function of anchoring cords in mice, despite its presence in the structure.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” This study provided the first X-ray crystal structure of the mammalian steroid hormone reductase AKR1D1 and identified a disease-related mutant, P133R, which may impact bile acid metabolism and cause clinical symptoms.
July 2024 in “Journal of Investigative Dermatology” The Fas/FasL pathway may play a role in alopecia areata.
4 citations
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January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
24 citations
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January 2000 in “Dermatology” This study found that men with adrenomyeloneuropathy often experience diffuse hair loss and severe male-pattern baldness, potentially due to the X-linked ALD mutation's role in androgenetic alopecia's genetic spectrum.
24 citations
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May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
November 2024 in “Benha Journal of Applied Sciences” In this study, the researchers explored how the loss of structural integrity in hair follicles due to reduced α-SMA expression in the vertex area may contribute to androgenetic alopecia.
35 citations
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March 2014 in “British Journal of Dermatology” This study found that in androgenic alopecia, the arrector pili muscle degenerates and is replaced by fat, unlike in normal skin or telogen effluvium.
October 2024 in “Skin Appendage Disorders” This study found that serum FABP4 levels were significantly higher in alopecia areata patients compared to healthy controls and may correlate with disease severity.
44 citations
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January 2006 in “Biological & Pharmaceutical Bulletin” This research suggests that testosterone-induced expression of TGF-beta1 and type I procollagen may lead to perifollicular fibrosis in androgenetic alopecia, with finasteride inhibiting this process as a possible mechanism for its effects.
3 citations
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January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
72 citations
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November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
1 citations
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November 2022 in “Journal of Investigative Dermatology” This study found that ALRN-6924, a clinical-stage dual inhibitor, can selectively protect human scalp hair follicles from paclitaxel-induced toxicity and damage by inducing transient cell cycle arrest in healthy cells without affecting cancer cells, potentially reducing chemotherapy-induced alopecia.
5 citations
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March 2021 in “Hepatitis Monthly” This study found that tenofovir alafenamide fumarate (TAF) is an effective and safer alternative to tenofovir disoproxil fumarate (TDF) for chronic hepatitis B, with fewer long-term side effects like nephrotoxicity and decreased bone density.
1 citations
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November 1995 in “Postgraduate medical journal” This article presents a case of 5-alpha-reductase deficiency in a Saudi individual, reporting no new research findings.
This study found that patients with frontal fibrosing alopecia showed significant alterations in protein expression in forehead corneocytes, suggesting the condition may have systemic implications beyond the scalp.
2 citations
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July 2012 in “BMJ” In this case report, a woman initially misdiagnosed with rosacea was later correctly diagnosed with frontal fibrosing alopecia after further examination and treated with oral finasteride and hydroxychloroquine to stabilize her condition.
14 citations
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October 1974 in “Archives of Dermatology” This study found a significantly higher frequency of females with six or more fingerprint arches among those with alopecia areata compared to controls.
September 2024 in “Journal of the American Academy of Dermatology” In this study, a novel compound named AH-001 demonstrated effective androgen receptor protein degradation, reducing hair loss progression in a mouse model of androgenetic alopecia, with minimal systemic exposure and side effects, suggesting potential for safer treatment.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the absence of Hif-p4h-2 in specific mouse skin cells disrupted hair follicle development, leading to hair loss due to irregular keratin formation and pathway signaling.
June 2026 in “Archives of Dermatological Research” In this study, the rs4541843 G > A variant was found to be significantly associated with increased risk and severity of alopecia areata, as well as elevated expression of hsa-miR-182-5p, suggesting their potential as molecular markers for diagnosis and severity assessment.
1 citations
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July 2015 in “Microscopy Research and Technique” In this study, researchers found that patients with Friedreich's ataxia exhibited more pronounced ultra-structural hair alterations compared to carriers, likely due to oxidative stress related to deficient frataxin expression.
2 citations
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June 2021 in “Sultan Qaboos University medical journal” This case report presents three sisters with familial frontal fibrosing alopecia, making it the 25th documented familial case, with treatment results observed in one sister.
6 citations
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June 2018 in “PLOS ONE” This study demonstrated that the Alopecia Areata Assessment Tool (ALTO) effectively identifies alopecia areata cases with high sensitivity and specificity in a dermatology clinic setting.
28 citations
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July 2007 in “Development” In this study, inactivating the TAF4 subunit of transcription factor TFIID in mouse epidermis disrupted gene expression linked to skin and hair function, and increased tumor risk.
2 citations
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December 2004 in “PubMed” 3 citations
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April 2012 in “Journal of the American Academy of Dermatology” Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
4 citations
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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.