38 citations
,
January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
8 citations
,
September 2022 in “Human genomics” Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
April 2026 in “Development” Hemidesmosomes and Notch signaling help skin cells mature by moving them to the outer layer.
7 citations
,
January 2023 in “Frontiers in cell and developmental biology” Celsr1 is crucial for skin cell alignment, while Celsr2 has little effect on this process.
16 citations
,
October 2004 in “Journal of Investigative Dermatology” Normal human melanocytes can avoid cell death through multiple pathways.
19 citations
,
January 2001 in “Internal Medicine” Protein-losing enteropathy worsened with lupus symptoms but improved with prednisolone.
172 citations
,
March 2019 in “The EMBO Journal” FERONIA and LRX proteins help control cell growth in plants by regulating vacuole expansion.
December 2025 in “Rapid Communications in Mass Spectrometry” Pepsin digestion improves accuracy in analyzing proteins in human hair.
February 2025 in “Animals” Understanding proteins in skin structures like claws and hair is crucial for future research.
53 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” KAP genes show significant genetic variability, but its impact on hair traits is unclear.
6 citations
,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
9 citations
,
July 2022 in “Journal of Biological Chemistry” WWP2 is crucial for tooth development in mice.
6 citations
,
October 1998 in “Experimental Dermatology” Normal skin results from interactions between EGF and the Tabby mutation.
99 citations
,
February 2000 in “PubMed” Overexpressing PKCepsilon in mice reduces papillomas but increases carcinomas.
June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” Topical IKKα inhibitors may help prevent CCS tumours.
January 2026 in “British Journal of Dermatology” ELF5 is essential for skin cell growth and maintenance.
May 2025 in “Cermin Dunia Kedokteran” Leukokoria can signal Coats disease or other retinal issues, requiring early detection to prevent severe outcomes.
47 citations
,
April 2012 in “Analytical and Bioanalytical Chemistry” 62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
December 2023 in “Sains Malaysiana” The enzyme Rand protease works well for leather dehairing and its stability is important, with Leu75 playing a key role.
28 citations
,
December 2015 in “Journal of biological chemistry/The Journal of biological chemistry” Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.
July 2022 in “New Zealand journal of agricultural research” The KRTAP27-1 gene variations in sheep may affect wool length and weight.
January 2025 in “Open University of Cape Town (University of Cape Town)” Lipids play a key role in determining hair curvature.
68 citations
,
April 2014 in “Journal of Investigative Dermatology” Trichohyalin-like proteins are essential for the development of skin structures like hair, nails, and feathers.
11 citations
,
August 2006 in “Cell Biology International” Endothelin-1 helps amelanotic melanocytes stick and move better on certain proteins.