April 2026 in “Research Square” This study found that COVID-19 infection disrupts spermatogenesis, alters testicular cell populations, and may impact male fertility by causing long-term changes in testicular function and reduced sperm quality, as observed even in patients who have recovered from the acute phase of the infection.
August 2025 in “Scientific Reports” This study found that the protein C4BPA may link insulin resistance and acne vulgaris by influencing lipid metabolism and inflammatory pathways, suggesting it as a potential mediator in the pathogenesis of both conditions.
60 citations
,
July 2014 in “Autophagy” This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.
29 citations
,
December 2021 in “Biomedicines” This study found that exosomes from different mesenchymal stem cell sources had distinct effects on immune cell functions and varied microRNA expression profiles compared to their original cells.
5 citations
,
February 2025 in “International Journal of Molecular Sciences” This study investigated pyranoanthocyanin Vitisin A and found it significantly lowered triglyceride levels and reduced body weight in high-fat diet-fed mice, outperforming Cyanidin-3-O-glucoside by inhibiting hepatic lipogenesis and enhancing fatty acid β-oxidation.
2 citations
,
January 2025 in “JAAD Case Reports” Topical metformin may improve hair regrowth in CCCA when added to standard treatments.
52 citations
,
April 2012 in “Journal of Investigative Dermatology” This study found that KRTAP2 proteins predominantly express in the hair shaft cortex of humans, interact with hair keratins, and play crucial roles in hair shaft keratinization.
34 citations
,
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.
280 citations
,
January 2004 in “The EMBO Journal” AGC2-1 protein is essential for root hair growth in Arabidopsis.
April 2023 in “Cancer research” This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.
51 citations
,
December 2006 in “Mammalian Genome”
28 citations
,
March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
February 2020 in “Definitions” This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.
11 citations
,
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.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
82 citations
,
April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
7 citations
,
December 2015 in “International Journal of Dermatology” In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
1 citations
,
April 2021 in “IntechOpen eBooks” This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.
53 citations
,
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.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
26 citations
,
March 1995 in “Differentiation” This study isolated and sequenced the complete gene rKAP4L1, which encodes a cysteine-rich hair keratin-associated protein in rabbit hair follicles.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
61 citations
,
September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
135 citations
,
October 1999 in “Journal of Cell Science” This study found that overexpression of PKCα in mouse epidermis increases expression of specific proinflammatory mediators and induces inflammation but does not significantly affect epidermal differentiation, proliferation, or tumor promotion with TPA.
1 citations
,
August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.