ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
46 citations
,
November 2007 in “Gene Expression Patterns” Trps1 plays a key role in hair follicle development and cycling.
2 citations
,
August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
4 citations
,
August 2022 in “Cells” lncRNA2919 slows down rabbit hair growth by stopping cell growth and causing cell death.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
June 2025 in “International Journal of Nephrology and Renovascular Disease” PLA2R1 overexpression harms kidney cells by stopping their growth cycle.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
6 citations
,
March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The STRIPAK complex is crucial for skin cell organization and creating a functional skin barrier.
26 citations
,
March 1995 in “Differentiation” A rabbit gene important for hair development was identified and detailed.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
4 citations
,
January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
15 citations
,
March 2021 in “EMBO Reports” PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.
6 citations
,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
84 citations
,
September 2008 in “Developmental biology” Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.
37 citations
,
December 1995 in “Journal of Cell Science” Nexin 1 may help control hair growth.
1 citations
,
April 2016 in “Journal of Investigative Dermatology” NLRP1 helps melanoma tumors grow by boosting inflammasome activation and reducing caspase-3 activity.
36 citations
,
September 1999 in “Journal of Cell Science” Basonuclin may help control ribosomal RNA gene activity in skin cells.
Defective nuclear transport may cause gene expression changes in Progeria.
7 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” NIPP1 is important for healthy skin and could help treat skin inflammation.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
44 citations
,
May 2023 in “MedComm” PROTAC technology shows promise for cancer treatment but needs more effective E3 ligase recruiters.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
81 citations
,
February 2019 in “Experimental & Molecular Medicine” PAK4 is crucial in cancer progression, brain development, and could be a therapeutic target, especially through the PAK4-CREB axis.
10 citations
,
May 2021 in “Frontiers in Plant Science” OsRopGEF3 is crucial for rice root hair growth and ROS production.
17 citations
,
February 2015 in “Cell Death and Disease” Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.