January 2012 in “DigtalCommons @ Texas Medical Center Library (Texas Medical Center)” Stat3 affects skin cancer development by altering keratinocyte stem cell behavior.
9 citations
,
July 2022 in “Journal of Biological Chemistry” WWP2 is crucial for tooth development in mice.
July 2017 in “Cancer Research” Krt15+ cells in mice can resist radiation, regenerate tissue, and start tumors, suggesting new cancer treatment targets.
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.
May 2015 in “Endocrinología y nutrición” The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
17 citations
,
November 2000 in “Journal of Investigative Dermatology” ZPK helps skin cells mature and may affect skin health.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
8 citations
,
June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
37 citations
,
August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
5 citations
,
September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
54 citations
,
January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
113 citations
,
May 2002 in “PubMed” Overexpressing COX-2 in mice skin reduces skin tumor development.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
10 citations
,
December 2008 in “Molecular Carcinogenesis” The PML protein helps prevent skin cancer in mice.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
57 citations
,
January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
61 citations
,
September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
63 citations
,
April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.