6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
2 citations
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December 2013 in “Cancer research” Enobosarm may effectively treat androgen receptor-positive breast cancer with fewer side effects.
53 citations
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January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
1 citations
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June 2024 in “Frontiers in Physiology” Endoplasmic reticulum stress plays a key role in developing atherosclerosis.
August 1994 in “Molecular Endocrinology” Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
2 citations
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July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
November 2023 in “Research Square (Research Square)” NIR-II imaging effectively tracked stem cells that helped repair facial nerve defects in rats.
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
7 citations
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September 2024 in “PLANT PHYSIOLOGY” RALF22 is essential for root hair growth in response to fungal emissions in Arabidopsis.
April 2018 in “Journal of Investigative Dermatology” Basonuclin 1 (BNC1) helps skin cells multiply and move, which is crucial for wound healing.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
114 citations
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September 1985 in “Journal of Investigative Dermatology”
June 2026 in “Scientific Reports” Nestin-expressing hair follicle cells may be useful for nerve repair and regeneration.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
5 citations
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September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
Proretinal nanoparticles are a safe and effective way to deliver retinal to the skin.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
March 2025 in “FEBS Journal” Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
21 citations
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April 2008 in “Toxicologic Pathology” CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.
March 2023 in “The Journal of Urology” Higher SRD5A2 expression predicts better response to finasteride in treating urinary symptoms.
104 citations
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May 2003 in “Endocrinology” Lampreys have a functional vitamin D receptor that may help detoxify harmful substances.
June 2011 in “Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)” Estrogens and androgens are crucial for male fertility.
Correcting EDA fibronectin organization and YAP translocation can improve wound healing in fibrotic conditions.
August 2021 in “The Journal of Physiology” NKCC1 transporters help control neuron excitability and inhibition.
7 citations
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March 2023 in “The Journal of Biochemistry” LONRF1 is important for oxidative damage response and tissue remodeling during wound healing.
30 citations
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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.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.