9 citations
,
November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
35 citations
,
March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” SRD5A2 gene variations affect PTSD symptoms differently in males and females.
6 citations
,
August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)” Peptide nanoparticles can effectively deliver CRISPR-Cas9 to target KRAS mutations in cancer.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
February 2026 in “Endokrynologia Polska” Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
January 2018 in “Elsevier eBooks” Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
38 citations
,
July 2020 in “EMBO journal” SIRT7 protein is crucial for starting hair growth in mice.
40 citations
,
December 2010 in “Human Genetics”
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
July 2025 in “Frontiers in Pharmacology” G-1 promotes hair growth in female mice by activating specific signaling pathways.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
11 citations
,
July 2022 in “Frontiers in Immunology” Four specific genes are linked to keloid formation and could be potential treatment targets.
18 citations
,
January 2008 in “Journal of The American Academy of Dermatology” Certain proteins and their receptors are more active during the growth phase of human hair and could be targeted to treat hair disorders.
8 citations
,
January 2017 in “Journal of Biological Chemistry” Astrotactin-2 is cleaved in a specific way that helps understand its maturation.
17 citations
,
May 2011 in “Gene Therapy” Using polyethylenimine-DNA to deliver the hTERT gene can stimulate hair growth and may be useful in treating hair loss, but there could be potential cancer risks.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
November 2024 in “Journal of Investigative Dermatology” Polygenic Score can help predict severe psoriasis and psoriatic arthritis.
Glypican-1 is important for hair follicle blood vessel growth and could be a target for treating hair loss.
January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
Finasteride may help treat childhood brain tumors by activating certain genes.
30 citations
,
March 2019 in “Archives animal breeding/Archiv für Tierzucht” The KRTAP15-1 gene affects cashmere fiber thickness in goats.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
11 citations
,
October 2017 in “Oncotarget” Gsdma3 affects hair growth by controlling Wnt5a, which influences hair cell development.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
January 2022 in “Mammalian Genome” The wavy coat in NCT mice is caused by multiple genes, including a mutation in the Prss53 gene.