April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
10 citations
,
November 2020 in “American Journal Of Pathology” Integrin β1 is crucial for liver structure and function, preventing fibrosis.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
January 2007 in “Bristol Research (University of Bristol)” Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
20 citations
,
October 2008 in “European journal of endocrinology” Lower lipin 1β in belly fat is linked to insulin resistance in people with polycystic ovary syndrome.
11 citations
,
January 2018 in “Acta dermato-venereologica” Researchers found specific genes in the part of hair follicles that could help treat hair disorders.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
70 citations
,
December 2008 in “Cancer Research” CXCR2 in skin cells promotes tumor growth.
24 citations
,
January 2019 in “Theranostics” Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
176 citations
,
February 2006 in “Cancer Research” Patched1 helps prevent tumors by controlling cell growth.
13 citations
,
October 2024 in “Scientific Reports” Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
December 2021 in “Research Square (Research Square)” M-CSF-stimulated myeloid cells can cause alopecia areata in mice.
5 citations
,
November 2022 in “Genetics selection evolution” Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
12 citations
,
December 2022 in “Frontiers in Bioscience-Landmark” The role of certain genes in skin cell development may be linked to psoriasis, but the connection is unclear.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
15 citations
,
November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
February 2025 in “PubMed” CS12192 effectively treats alopecia areata with better safety than current options.
December 2004 in “PLoS ONE” The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
January 2021 in “대한미용학회지” Boswellia may improve skin inflammation symptoms and positively influence hair growth in mice.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” DKK2 and SOSTDC1 together are necessary for the normal timing of the first regression phase in the hair growth cycle.