July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
July 2023 in “New phytologist” The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
May 2023 in “International journal of molecular sciences” The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
June 2016 in “International journal of recent surgical and medical science” Early balding in men is linked to metabolic syndrome, so screening is important for prevention.
1 citations,
July 2015 in “European Journal of Dermatology” CO₂ laser treatment is fast and effective for some benign skin tumors with minimal side effects.
24 citations,
September 2005 in “Journal of Cellular Biochemistry” Retinoids increase steroid sulfatase activity in leukemia cells through RARα/RXR and involves certain pathways like phosphoinositide 3-kinase and ERK-MAP kinase.
8 citations,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
June 2006 in “British Journal of Dermatology” Lower adrenal hormone levels may cause hair loss in postmenopausal women, certain patterns help diagnose nail cancer, and a gene variant linked to higher skin cancer risk in kidney transplant patients suggests monitoring folate levels.
23 citations,
May 2020 in “Cell Death and Disease” Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.
28 citations,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
26 citations,
March 2014 in “Arquivos Brasileiros De Endocrinologia E Metabologia” The document concludes that proper diagnosis and combined treatments are key for hirsutism management, and weight loss may help overweight patients.
69 citations,
June 2017 in “Experimental Biology and Medicine” Advanced human skin models improve drug development and could replace animal testing.
26 citations,
February 2012 in “Journal of Investigative Dermatology” Human hair follicle cells can be successfully transformed into different types of cells, but not more efficiently than other adult cells.
20 citations,
June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” Certain inhibitors can potentially treat prostate cancer and other hormone-dependent conditions by controlling sex hormone levels in cells.
15 citations,
December 2021 in “Pharmaceutics” The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
12 citations,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
2 citations,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
9 citations,
September 2015 in “Reproductive Biomedicine Online” Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
December 2021 in “Research Square (Research Square)” Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
9 citations,
September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
December 2022 in “Journal of neurodevelopmental disorders” Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
21 citations,
June 2016 in “Genesis” Researchers identified specific genes that are important for mouse skin cell development and healing.
8 citations,
February 2015 in “Cellular immunology” Deleting Snai2 and Snai3 causes fatal autoimmunity.
September 2023 in “Nature Communications” Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
12 citations,
March 2004 in “International Journal of Dermatology” Woman's hair loss diagnosis changed from CTE to AA; multiple biopsies important for accurate diagnosis.
3 citations,
February 2020 in “The Egyptian Rheumatologist” Recognizing LET and AITD can help diagnose SLE early for better treatment.
103 citations,
June 2018 in “International Journal of Molecular Sciences” FGF signaling is a promising target for developing treatments for wounds, metabolic diseases, and cancer.
37 citations,
January 2008 in “Gynecological Endocrinology” Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
9 citations,
March 2019 in “Science” Blocking cell death in certain stem cells can improve wound healing and tissue regeneration.