Defective nuclear transport may cause gene expression changes in Progeria.
53 citations
,
August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
36 citations
,
September 1999 in “Journal of Cell Science” Basonuclin may help control ribosomal RNA gene activity in skin cells.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
1 citations
,
January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
24 citations
,
February 2015 in “Experimental Cell Research” NFIC helps human dental stem cells grow and become tooth-like cells.
25 citations
,
November 2017 in “Molecular Medicine Reports” PlncRNA-1 helps hair follicle stem cells grow and develop by controlling a specific cell signaling pathway.
January 2026 in “Advanced Science” Increasing XIAP and DDRGK1 can help prevent hearing loss from loud noise.
4 citations
,
November 2024 in “Cell Biology and Toxicology” Blocking certain receptors in the lungs might help treat a specific type of asthma.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
1 citations
,
May 2025 in “Cell Reports Medicine” RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
126 citations
,
October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
May 2025 in “The FASEB Journal” Targeting the TNFRSF1B gene may help treat hair loss.
47 citations
,
June 2019 in “Nature Communications” Noncoding dsRNA boosts hair growth by activating TLR3 and increasing retinoic acid.
39 citations
,
December 1998 in “Journal of Cell Science” The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Double stranded RNA helps skin wounds heal by coordinating specific proteins and signaling pathways.
107 citations
,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
36 citations
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November 2018 in “BMC plant biology” ROXY proteins help plants respond to nitrate shortage by affecting nutrient sensing and growth.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Armadillo Repeat Only proteins are essential for proper plant growth and response by regulating calcium channels.
78 citations
,
October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
21 citations
,
January 1999 in “Molecular and Cellular Biochemistry” Niacin deficiency makes rats more sensitive to cancer-causing chemicals.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.