January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
53 citations
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October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
January 2026 in “Dermatologic Therapy” This study found that elevated tissue RBP4 levels correlate with disease severity in alopecia areata and decrease after effective baricitinib treatment, while the rs3758539 polymorphism is linked to disease susceptibility but not to treatment response.
2 citations
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January 2017 in “Folia biologica” This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.
34 citations
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January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
9 citations
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September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that men without prostate cancer carrying the A-allele of SNP rs1204038 had a 65% higher risk of PSA levels above 3 ng/mL compared to those with the G-allele, increasing referrals for further examination.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
11 citations
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May 2018 in “Frontiers in plant science” This study found that overexpressing the PCaP2 protein in Arabidopsis enhanced drought tolerance by influencing ABA and SA signaling pathways and regulating root hair growth, suggesting a key role in water deficit response.
10 citations
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February 2008 in “Photochemistry and photobiology” This study suggests that the vitamin D receptor and hairless gene may directly regulate each other via a transcriptional mechanism, potentially explaining phenotypic similarities between atrichia and VDRRIIa rickets.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
March 2026 in “Jurnal Biomedika dan Kesehatan” In this pilot study of Indonesians, the rs1998076 genetic variant was not significantly linked to androgenetic alopecia, though the GG genotype showed a non-significant trend toward higher odds, while clinical factors like age and hypertension were correlated with increased risk.
86 citations
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December 2002 in “Tissue Antigens” In this study, researchers found that the AIRE G961C variant is a significant risk factor for severe alopecia areata and early-onset cases, particularly in patients with alopecia universalis.
84 citations
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June 2010 in “The Plant Cell” In this study, disruptions in phospholipase A2 activity in Arabidopsis thaliana significantly impaired the plasma membrane localization of PIN proteins, affecting auxin transport and root development.
107 citations
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April 2014 in “The Plant cell” In this study, researchers showed that the CAP1 gene regulates root hair growth in plants by modulating cytoplasmic ammonium levels and maintaining calcium gradients, highlighting its role in ammonium homeostasis.
6 citations
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April 2023 in “Current Issues in Molecular Biology” This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.
July 2018 in “Hair transplant forum international” This abstract contains only author affiliations and mentions the Asian Association of Hair Restoration Surgeons, without presenting any new research findings.
29 citations
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September 2017 in “Genes” This study found that in Merino-Southdown cross sheep, the presence of the C variant of the KRTAP26-1 gene was associated with higher wool quality, including increased wool yield and staple length.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
8 citations
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December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
3 citations
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September 2019 in “PLOS ONE” In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.
18 citations
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April 2011 in “International Journal of Molecular Medicine” This study found that dihydrotestosterone (DHT) regulates the degradation of p27 in MCF-7 breast cancer and OVCAR-3 ovarian cancer cells, involving SKP2 as a key factor.
104 citations
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May 2003 in “Endocrinology” This study found that the vitamin D receptor in lampreys, which lack bones and hair, binds 1,25-dihydroxyvitamin D3 and may function to induce enzymes for detoxifying substances.
January 2013 in “Scholarworks (University of Massachusetts Amherst)” This dissertation reveals that FERONIA, a cell wall-binding receptor kinase, plays a crucial role in regulating plant functions such as sugar signaling, pollen tube reception, and RAC/ROP-mediated auxin signaling.
June 2026 in “Value in Health” October 2021 in “Scholarworks (University of Massachusetts Amherst)” This dissertation demonstrates that FERONIA regulates essential plant functions such as RAC/ROP signaling, pollen tube reception, cell wall integrity, and sugar signaling as a cell surface receptor kinase.