April 2026 in “Communications Biology” In this study of Danioninae species, researchers reported that the presence of breeding tubercles on the pectoral fins is conserved in certain species and linked to local androgen conversion, with steroid 5-α-reductase playing a crucial role in their development.
11 citations
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July 2014 in “Gene” This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.
April 2010 in “Cancer Research” This study suggests that Mcl-1 has a non-apoptotic role in promoting keratinocyte proliferation and Wnt/β-catenin signaling, potentially indicating a novel oncogenic activity.
42 citations
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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
December 2022 in “Frontiers in plant science” This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.
8 citations
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June 2001 in “Journal of Biological Chemistry” This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.
36 citations
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March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
4 citations
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November 2024 in “Journal of Advanced Research” In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.
April 2023 in “Journal of Investigative Dermatology” This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
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.
January 2024 in “Wiadomości Lekarskie” In this case-control study, researchers investigated the association between SIRT1 gene polymorphisms and colorectal cancer risk, finding no statistically significant differences in polymorphism frequencies between patients and controls, but noted trends that warrant further study in larger populations.
16 citations
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November 1994 in “Developmental Biology” Retinoic acid causes gland formation instead of hair in mouse skin by altering epidermal and dermal interactions.
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.
1 citations
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January 2023 in “Frontiers in genetics” This study identified specific genetic markers related to wool quality in Rambouillet sheep, which may aid breeders in making informed selection and breeding decisions for improved fine wool production.
February 2020 in “Definitions” This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.
December 2021 in “Figshare” This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
July 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study used a multi-layer in silico framework to evaluate Korean herbal compounds for androgenetic alopecia, identifying Biochanin A, Saponin Re, and Emodin as potential topical candidates with distinct safety and affinity profiles, although these findings remain purely computational without experimental validation.
May 2026 in “Open Science Framework” This study conducted an in silico evaluation of Korean herbal compounds against key targets involved in androgenetic alopecia, finding Biochanin A, Saponin Re, and Emodin as promising candidates for topical treatments, but highlighting safety and topical formulation challenges.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study identified Saponin Re and Emodin as top candidates for treating androgenetic alopecia, suggesting future research in dermal papilla cell cultures and scalp organoids despite safety concerns.
612 citations
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February 2004 in “Nature” This study found that the OXI1 gene in Arabidopsis thaliana is vital for activating key protein kinases and is necessary for oxidative burst signal responses like pathogen resistance and root hair growth.
3 citations
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June 2017 in “Reproductive biomedicine online” In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.
June 2026 in “British Journal of Dermatology” In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.
153 citations
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June 2015 in “GenomeBiology.com” This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.
324 citations
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May 2002 in “Oncogene”