10 citations
,
October 2000 in “PubMed” This study found that transgenic mice expressing HPV E6/E7 in the outer root sheath experience continuous hair follicle cycling due to delayed catagen entrance and insensitivity to telogen resting signals.
36 citations
,
October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
3 citations
,
April 2020 in “American Journal of Case Reports” This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
35 citations
,
July 2010 in “The FEBS journal” In this study, researchers identified a highly reactive, isozyme-specific sequence for TGase 3, contributing to understanding its distinct functional role and activity distribution in the mouse epidermis.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
February 2014 in “Cancer Research” This study found that MYH9 acts as a tumor suppressor in squamous cell carcinomas by stabilizing p53 in the nucleus, suggesting its role in cancer prevention.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
4 citations
,
January 2001 in “Archives of Biochemistry and Biophysics” This study found that TPA induces apoptosis in pig renal epithelial cells by affecting cell cycle proteins, and activated ras can prevent this process.
1 citations
,
June 2022 in “Experimental dermatology” This study found that SHJH hr mice, with a Hairless gene mutation, exhibit accelerated skin aging potentially due to poor antioxidative protection, highlighting the Hr gene's role in skin aging.
1 citations
,
February 1991 in “Journal of Biological Chemistry” 26 citations
,
October 2018 in “Cancer Management and Research” This study suggests that elevated DKK1 expression, influenced by promoter methylation, is a significant prognostic biomarker for patients with head and neck squamous cell carcinoma.
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.
2 citations
,
October 2023 in “Cancer Reports” This study found that colorectal cancer patients could be categorized into two groups based on mitochondrial-related gene features, with distinct survival outcomes and tumor microenvironment characteristics, suggesting these features could inform individualized treatment plans.
10 citations
,
August 2023 in “The EMBO Journal” This study explored the epigenetic mechanisms of dermal fibroblast progenitor differentiation and found that the repressive chromatin profile from H3K27me3 prevents these progenitors from reforming skin in allograft assays, despite their multipotent potential.
6 citations
,
January 2010 in “Neoplasma” In this study, researchers found that shorter CA repeats in the ERbeta gene are correlated with PSA expression, and PSA immunoexpression is associated with increased disease-free survival in breast cancer.
26 citations
,
February 1998 in “Chemico-Biological Interactions” This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.
This study explored a mother and daughter with loose anagen hair syndrome linked to wooly hair, identifying an intronic variant in the KRT71 gene that affects hair keratin splicing, thus broadening the spectrum of KRT71-related disorders.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the peach gene CTG134, involved in auxin-ethylene interactions, plays a role in hormonal regulation during root hair formation in Arabidopsis and tobacco.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
18 citations
,
February 2015 in “Acta Crystallographica Section D: Structural Biology” This study reports that Ca 2+ binding alters the dynamics and surface properties of PKD-like domains in Clostridium histolyticum collagenases, enhancing their stability and potentially aiding in collagen-targeting vehicle development.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
5 citations
,
January 2011 in “Archives de Pédiatrie” This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.
3 citations
,
September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
February 2025 in “Intisari Sains Medis” This article explores the potential mechanisms by which polydeoxyribonucleotide (PDRN) could improve skin quality, slow aging, and enhance skin regeneration, but reports no new clinical findings.
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.
35 citations
,
April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
60 citations
,
December 2003 in “Journal of Investigative Dermatology” This study found that keratin 6hf, a type II keratin, is expressed in specific regions of mouse and human hair and suggests potential interactions with keratin 17, impacting hair development and associated disorders.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.