45 citations
,
September 1998 in “Journal of Investigative Dermatology” The enzyme 17β-HSD type 2 mainly performs oxidation in human sebaceous glands, which may help protect against acne.
1 citations
,
November 2002 in “Journal of dermatology” The antibody created from BCC tissues reacts similarly to both BCC and hair follicles, suggesting BCC may come from hair follicle cells.
6 citations
,
September 2024 in “Current Oncology” Sacituzumab Govitecan is effective for certain breast cancers but requires careful management of side effects.
November 2025 in “Journal of Investigative Dermatology” Tanning ability is linked to specific DNA changes in skin genes.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
1 citations
,
February 1991 in “Journal of Biological Chemistry” 
11 citations
,
April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
72 citations
,
January 2003 in “American Journal of Pathology” A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
3 citations
,
April 2019 in “Stem cells international” Markers CRABP1, Nestin, and Ephrin B2 are present in skin cancer environments and may influence their development.
18 citations
,
April 2014 in “Stem cells” The study found stem cells in minor salivary glands that can differentiate and are involved in tumor formation when exposed to tobacco.
179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
24 citations
,
January 2019 in “Theranostics” Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
11 citations
,
January 1992 in “PubMed” TGF-beta 1 and IGF-II mRNA have specific patterns in pig subcutaneous tissue, affecting fat and muscle development.
24 citations
,
September 2019 in “Experimental cell research” BMP2 helps hair follicle stem cells become specialized by increasing PTEN, which causes autophagy.
3 citations
,
February 2019 in “Disease Markers” The index to ring finger ratio may indicate disease severity in female ankylosing spondylitis patients, but not in males.
August 2024 in “American Journal of Medical Genetics Part A” Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare disorder characterized by liver dysfunction, hypotonia, developmental delay, coarse hair, and dysmorphic features. This report describes the fifth and sixth cases of THNS from Saudi Arabia, both presenting with these symptoms. Genetic analysis revealed pathogenic variants in the CCDC47 gene: a homozygous variant in Case 1 and two heterozygous variants in Case 2, confirmed to be in trans phase through parental testing. These findings contribute to a stronger gene-disease association and help clarify the clinical phenotype and mutational spectrum of THNS.
3 citations
,
April 2022 in “Research Square (Research Square)” PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
83 citations
,
July 2008 in “Current Opinion in Chemical Biology” The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.
1 citations
,
May 2025 in “Cell Reports Medicine” RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
October 1998 in “RePub (Erasmus University, Rotterdam)” Basal cell carcinoma cases are rising globally.
6 citations
,
February 1997 in “International Journal of Dermatology” Kaposi's sarcoma lesions might originate from benign tissue changes.
April 2017 in “Journal of Investigative Dermatology” SB414 may be an effective treatment for atopic dermatitis by reducing swelling and bacterial infection.
48 citations
,
March 2003 in “International Journal of Cancer” DMBT1 and galectin-3 may help suppress epithelial skin cancer.
31 citations
,
October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
2 citations
,
October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.