81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
January 2017 in “Clinical & medical biochemistry” Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
53 citations
,
January 2006 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Reduced AR gene methylation may cause early pubic hair growth in girls.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
19 citations
,
April 2015 in “Stem Cells” Pro-IGF-II improves muscle repair in old mice.
1 citations
,
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Injury boosts normal skin cell growth, reducing cancer cell advantage.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
16 citations
,
October 2014 in “Cell death and disease” FoxN1 overexpression in young mice harms immune cell and skin development.
4 citations
,
October 2023 in “African Journal of Urology” Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
49 citations
,
March 2017 in “PubMed” Enhancers and super-enhancers are key in controlling specific gene activity and can play a role in cancer development.
December 2017 in “Journal of Cosmetic Dermatology” Researchers found certain genes are overactive and others are underactive in men with early balding, which could help create new treatments.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
1 citations
,
January 2025 in “Frontiers in Immunology” Genetically at-risk healthy people show similar immune issues as those with Pemphigus vulgaris or Alopecia areata.
27 citations
,
December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
33 citations
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January 2018 in “International Journal of Biological Sciences” CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.
11 citations
,
November 2014 in “Behavior Genetics”
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
3 citations
,
March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
3 citations
,
March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
16 citations
,
March 2020 in “Animal Biotechnology” Transgenic sheep embryos with a specific promoter were successfully created, but more research is needed for gene expression in hair follicles.
October 2013 in “International Journal of Pediatric Endocrinology/International journal of pediatric endocrinology” A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
58 citations
,
December 2018 in “Nature Communications” Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
3 citations
,
December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
6 citations
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April 2024 in “Journal of Investigative Dermatology” CRISPR-based tools improve understanding and treatment of skin development and conditions.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
October 2012 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Six new genes linked to early hair loss were found, which also surprisingly connect to Parkinson's disease and lower fertility.
July 2024 in “Journal of Investigative Dermatology” PP405 may help hair growth by activating hair follicle stem cells.
CRISPR/Cas9 gene-editing shows promise for livestock breeding but faces challenges like low efficiency and off-target effects.
December 2025 in “Pharmaceutics” Personalized skin rejuvenation using genomics shows promise but needs more research.