November 2022 in “Journal of Investigative Dermatology” This study generated a transcriptomic map of human hair follicle compartments, providing a database for identifying compartment-specific gene expression which may aid in developing targeted treatments for hair follicle disorders.
35 citations
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August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
6 citations
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December 2018 in “The American Journal of Dermatopathology” This study found that the presence of premature desquamation of the inner root sheath in noninflamed hair follicles is a relatively specific marker for diagnosing central centrifugal cicatricial alopecia.
14 citations
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May 2016 in “International Journal of Molecular Sciences” This study showed that knocking out the Ppp2ca gene in the epidermis of mice led to significant hair loss and disrupted hair follicle morphogenesis and regeneration.
July 2026 in “Journal of Enzyme Inhibition and Medicinal Chemistry” This review discusses the evolution of Cereblon ligands in PROTAC technology, highlighting chemical innovations that may enhance drug-likeness and applicability in protein degradation, while noting challenges and future research directions.
3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
September 2022 in “JAAD case reports” This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that cannabinoid receptor type 1 may influence psoriasis development by modulating laminin-511 expression, suggesting a potential target for treatment.
5 citations
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December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
80 citations
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April 2011 in “Plant physiology” This study suggests that the GPX-PDE1 and GPX-PDE2 genes in white lupin enhance root hair development and contribute to Pi limitation acclimation by facilitating glycerophosphodiester degradation.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
April 2025 in “Journal of Diabetes & Metabolic Disorders” This study found that linc-PINT expression was significantly decreased in patients with atrial fibrillation compared to healthy controls, while several TGF-β signaling genes were increased, suggesting a potential role in heart arrhythmias' pathogenesis.
March 1998 in “Journal of Dermatological Science” Keratin-associated proteins may have roles in various mouse tissues, not just hair.
2 citations
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September 2004 in “Experimental Dermatology” This study found that VR1 activation in human hair follicles inhibited hair growth by suppressing proliferation and promoting apoptosis, suggesting VR1 plays an important role in hair growth regulation.
December 2024 in “Regenerative Therapy” This study found that altering levels of SFRP1 in human dermal papilla cells affects cell function and regulates Wnt/β-catenin signaling or telomerase activity, suggesting that targeting SFRP1 could potentially offer a new approach to treat hair loss diseases.
April 2018 in “Journal of Investigative Dermatology” This study found that keratin filament networks in SG1 cells of mice undergo dynamic changes during cornification, impacting the barrier function of the stratum corneum.
48 citations
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February 2010 in “Molecular biology reports” This study found that KAP7.1 and KAP8.2 genes were significantly more expressed in secondary hair follicles than primary follicles, suggesting their role in regulating cashmere fiber diameter.
February 2026 in “The Laryngoscope” This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that correcting the HGPS mutation with Adenine base editing partially rescued accelerated skin cell differentiation and reduced cell death in patient-derived stem cells.
49 citations
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July 2000 in “Journal of Histochemistry & Cytochemistry” This study found cell-specific variations in POMC mRNA and peptide expression in murine skin, suggesting that PC1 and PC2 convertases contribute to differential POMC processing.
July 2008 in “VTechWorks (Virginia Tech)” This study suggests that PrPC plays a role in the differentiation of mouse embryonic stem cells during neurogenesis, impacting neural progenitor cell development.
5 citations
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July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
56 citations
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April 2019 in “The Plant Journal” This study found that CNGC 6, CNGC 9, and CNGC 14 are crucial for maintaining calcium oscillations necessary for normal root hair growth in plants, with mutations leading to defects like swelling and bursting.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
8 citations
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November 2020 in “Journal of Cosmetic Dermatology” This preclinical study observed that a nanoencapsulated ingredient complex, AcPi, may prevent hair follicle aging and hair loss by reducing oxidative stress, enhancing mitochondrial activity and WNT/β-catenin signaling, and controlling androgenic metabolism when tested on human scalp cultures.
44 citations
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August 1990 in “PubMed” This study provides evidence for K1 and K10 derivatives' presence in the inner root sheath and hair cuticle, suggesting that these hair follicle parts may follow familiar keratinization principles.
1 citations
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January 2012 In this study, the researchers cloned and analyzed the CRABP I gene in Inner Mongolian cashmere goats, finding its highest mRNA expression at 90 days in embryo skin compared to later stages.