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.
April 2025 in “International Journal of Dermatology” This article proposes renaming frontal fibrosing alopecia to frontal fibrosing alopecia syndrome to better reflect its varied presentations and enhance understanding and treatment approaches.
14 citations
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June 2021 in “British journal of dermatology/British journal of dermatology, Supplement” This paper presents consensus guidelines for standardized diagnostic criteria and assessment methods for frontal fibrosing alopecia to improve clinical research and data collection globally.
14 citations
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January 1977 in “PubMed” This study found that a specific variant in hair keratin was present mainly in Caucasian samples, with few exceptions showing likely Caucasian admixture.
10 citations
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March 2016 in “Journal of The American Academy of Dermatology” This review discusses the potential usefulness and safety profile of oral antiandrogens for treating frontal fibrosing alopecia, noting possible benefits but acknowledges that finasteride's efficacy remains uncertain.
73 citations
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June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
30 citations
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October 2020 in “Nature Communications” This study provides the first crystal structure of the human SRD5A2 enzyme, revealing key insights into its function and inhibition which may aid future drug development.
5 citations
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March 2009 in “Pediatric Dermatology” The study found that pili bifurcati causes hair to intermittently split into two branches, each with its own outer layer.
This abstract provides contact information for Dr. Ban Kamoona at the Medical University – Sofia and contains no research findings.
21 citations
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July 2022 in “Orphanet journal of rare diseases” This review discusses recent advancements in therapies for ichthyosis, highlighting promising prospects in protein replacement and gene therapy, but it reports no new clinical results.
October 2021 in “QJM: An International Journal of Medicine” This study suggests that altered levels of NRF2 may be important in the development of androgenetic alopecia in men.
20 citations
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January 2002 in “Laboratory Animals” This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.
9 citations
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April 2006 in “International Journal of Dermatology” This article reviews the potential for α-difluoromethylornithine to help control hair growth and prevent cancer, but it does not present new clinical results.
7 citations
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December 2023 in “International Journal of Molecular Sciences” This study demonstrated that Forsythiaside A protected against oxidative stress in both cell models and a mouse model of liver damage, suggesting its potential as a liver-protective agent.
In this case study, a 36-year-old male with symptoms of keratosis pilaris atrophicans faciei and frontal fibrosing alopecia tested negative for a specific mutation, highlighting genetic testing's potential to improve diagnosis and treatment outcomes in these similar conditions.
14 citations
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July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
11 citations
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June 2017 in “Journal of cell science” In this study, researchers found that AGD1 is crucial for membrane recruitment during root hair development in Arabidopsis thaliana, with its pleckstrin homology domain essential for targeting specific plasma membrane regions.
43 citations
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November 2009 in “Archives of dermatology” This study found that alefacept showed no significant improvement in treating severe alopecia areata compared to placebo over a 24-week period.
January 2008 in “Annals of Nutrition and Metabolism” This study suggests that a specific region upstream of the TGF-β1 gene may play a key role in androgenetic alopecia by regulating gene expression in a cell-specific manner.
2 citations
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August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
60 citations
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April 1998 in “Baillière s Clinical Endocrinology and Metabolism” This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.
May 2026 in “Free Radical Biology and Medicine”
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” This case report describes a 57-year-old man's late diagnosis of X-linked adrenoleukodystrophy, highlighting the need to consider this condition in patients with non-autoimmune primary adrenal insufficiency and neurological issues.
6 citations
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January 2020 in “International journal of biological sciences” In this study, deletion of ROBO4 in mice ameliorated hair loss caused by elevated PAF levels, suggesting potential interplay with VLDLR-related pathways.
August 2024 in “Steroids” This review summarizes structural insights into androgen receptor dynamics, highlighting its flexibility in binding numerous partners, which may explain adaptive resistance mutations in cancer and loss of function in androgen insensitivity syndrome.
1 citations
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March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that HIF-P4H-2 function in FoxD1-lineage cells is crucial for normal hair follicle development and homeostasis in mice, implicating disrupted HIF, TGF-β, and Notch signaling pathways in associated defects.
7 citations
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April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
May 2021 in “The FASEB Journal” This study presents the crystal structure of human SRD5A2 with finasteride and reveals insights into its enzyme catalysis and inhibition mechanisms, which may inform drug development.
1 citations
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October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that depleting HIF-P4H-2 in FoxD1-lineage cells in mice led to disrupted hair follicle development, resulting in truncal alopecia but normal cranial hair, suggesting its crucial role in hair homeostasis.