March 2021 in “Medico-Legal Update” In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.
July 2025 in “Dermatologic Surgery” This article corrects a duplication error in a previous publication and reports no new research findings.
16 citations
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May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
This article reviews different generations of synthetic retinoids for dermatological use, discussing their efficacy and significant side effects, but reports no new clinical results.
In this study, researchers developed de novo designed hetero-bifunctional proteins as an alternative approach for targeted protein degradation, successfully targeting BCL-xL for degradation in cells and inducing apoptosis, which may expand the range of addressable E3 ligases and disease targets.
39 citations
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December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
9 citations
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February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
April 2023 in “Journal of Investigative Dermatology” This study found that overexpression of the lncRNA AL136131.3 may inhibit hair shaft growth and promote hair follicle apoptosis in androgenetic alopecia by influencing key metabolic pathways.
This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.
135 citations
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March 2000 in “Journal of Biological Chemistry” This review discusses the roles of the Agouti and Agouti-related proteins in pigmentation and energy regulation and reports no new experimental findings.
28 citations
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February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
1 citations
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September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
January 2026 in “SSRN Electronic Journal”
January 2025 in “Turkish Journal of Cerebrovascular Diseases” This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.
1 citations
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October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
September 2019 in “Journal of Investigative Dermatology” This study suggests that subtle modifications in ribosomal RNA methylation may influence cellular physiology and contribute to ribosome specialization in senescent human dermal fibroblasts.
6 citations
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March 1996 in “Journal of Investigative Dermatology”
September 2024 in “PubMed” This study found that patients with alopecia areata have distinct mRNA and lncRNA expression profiles between normal and bald scalp areas, identifying differentially expressed genes and revealing potential biomarkers for diagnosis, with keratin family genes possibly playing a key role in the disease's pathogenesis.
40 citations
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November 2016 in “Molecules” This review discusses the historical and current use of ribosome-inactivating protein-expressing plants in traditional medicine across various cultures and regions, highlighting their role despite a lack of scientific validation.
July 2018 in “Our Dermatology Online” In this study, researchers examined the under-studied mechanisms behind specific dermatological phenomena such as co-localization, Wolf's isotopic phenomenon, Koebner's isomorphic phenomenon, and the recently described Renbök phenomenon, noting that only a few cases have been reported so far.
May 2023 in “Elsevier eBooks” This source outlines current research exploring CRISPR-Cas9, siRNA, miRNA, and tissue engineering as potential treatments for androgenetic alopecia, noting the need for further safety and efficacy studies before human application.
February 2024 in “Cancers” This review highlights recent progress in developing androgen receptor degraders, such as PROTACs, for treating castration-resistant prostate cancer, and notes that several have entered phase I or II clinical trials, showcasing potential to address drug resistance challenges.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
9 citations
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March 2009 in “Psychoneuroendocrinology” This study found that variations in the androgen receptor gene influenced memory function in women, with GGN repeat polymorphisms significantly affecting logical memory performance only in females.
1 citations
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January 1992 in “DNA sequence” This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
3 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
May 2005 in “Comparative and Functional Genomics” This bibliography compiles recent publications on comparative and functional genomics across 16 sections and reports no new research findings.