8 citations,
October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
24 citations,
September 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
53 citations,
September 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
6 citations,
November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
9 citations,
April 2013 in “Archives of Dermatological Research” MC4R gene variants not linked to female hair loss.
4 citations,
April 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.
9 citations,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
27 citations,
August 2014 in “Wiley interdisciplinary reviews. Developmental biology” The skin and thymus develop similarly to protect and support immunity.
59 citations,
July 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
24 citations,
January 2000 in “Dermatology” Gene linked to common hair loss found, may lead to new treatments.
213 citations,
October 2017 in “Rheumatology” The guidelines suggest a detailed approach to diagnosing and treating lupus, with a focus on regular check-ups, personalized medicine, and a range of drug options for different cases.
102 citations,
January 2018 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Restoring hair bulb immune privilege is crucial for managing alopecia areata.
32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
26 citations,
October 2017 in “Scientific reports” A special microbe helps plants absorb rock phosphate by growing on their root hairs.
49 citations,
January 2018 in “Immunology” Psoriasis is linked to other autoimmune diseases and involves a specific inflammatory process.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
197 citations,
July 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
124 citations,
December 2016 in “Pharmaceuticals” TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.
106 citations,
November 2014 in “Cell Stem Cell” New single-cell analysis techniques are improving our understanding of stem cells and could help in treating diseases.
105 citations,
August 2010 in “Pharmacology & therapeutics” Formyl-peptide receptor agonists could be new anti-inflammatory drugs.
68 citations,
January 2012 in “The American journal of pathology” Abnormal Hedgehog signaling in blood cancers may help tumors grow and resist chemotherapy, suggesting potential for targeted treatments.
58 citations,
February 2016 in “Scientific reports” Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
47 citations,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
39 citations,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
36 citations,
October 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
35 citations,
October 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.
31 citations,
March 2018 in “Frontiers in Immunology” The document concludes that anti-dsDNA antibodies are not unique to SLE and their use as indicators is doubtful, highlighting the need for better understanding and classification of the disease.
30 citations,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.