99 citations
,
July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
95 citations
,
July 2010 in “Genes & development” Notch/CSL signaling controls hair follicle differentiation through Wnt5a and FoxN1.
40 citations
,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
36 citations
,
October 2016 in “Bone” A male with aromatase deficiency improved bone health with estradiol treatment.
28 citations
,
May 2020 in “BMC plant biology” The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.
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.
6 citations
,
July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
3 citations
,
February 2017 in “Archives of Medical Science” Finasteride treatment changes Cx43 in rat testes, possibly causing fertility issues.
1 citations
,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
1 citations
,
September 2016 in “Journal of Dermatological Science” FGF18 treatment during hair's resting phase can protect against hair loss from radiation.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
April 2026 in “Frontiers in Cell and Developmental Biology” Hair cell loss usually happens after hearing loss starts.
October 2025 in “Communications Medicine” Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
January 2024 in “Wiadomości Lekarskie” Urban children in western Belarus had more severe COVID-19 cases in 2021.
January 2024 in “Wiadomości Lekarskie” Interdisciplinary treatment is crucial for effective recovery from facial skull injuries.
January 2024 in “Wiadomości Lekarskie” Early lung cancer screening in Ontario reduces deaths and is cost-effective.
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.
September 2023 in “Curēus” A 21-year-old male has a benign skin condition called Becker's nevus, which he chose not to treat.
December 2022 in “Frontiers in plant science” CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
March 2022 in “Journal of South Asian Association of Pediatric Dentistry” Dentists should start preventive treatments early for children with Ichthyosis Vulgaris to avoid dental problems.
September 2016 in “Journal of Dermatological Science” Wnt-10b is important for keeping mouse skin cells healthy for hair growth.
273 citations
,
May 2017 in “The Lancet” Some drugs can cause rare but potentially deadly skin reactions, and early treatment and avoiding the drug again are key.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
72 citations
,
July 2012 in “Journal of Investigative Dermatology” Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.
65 citations
,
September 2004 in “The American journal of pathology” Blocking BMP signaling causes hair loss and disrupts hair growth cycles.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
32 citations
,
August 2015 in “Journal of Investigative Dermatology” Prominin-1 expressing cells in the dermal papilla help regulate hair follicle size and communication but don't aid in skin repair.
21 citations
,
October 2013 in “Molecular Biology of the Cell” The protein CCN2 controls hair growth by affecting hair follicle formation and stem cell activity in mice.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.