15 citations,
January 1987 in “Electrophoresis” Human head hair proteins can be typed into eight distinct patterns, useful for genetic and forensic investigations.
2 citations,
September 2020 in “Schweizer Archiv für Tierheilkunde” Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
16 citations,
April 2018 in “Animal Genetics” Researchers found two genes that may explain why some Casertana pigs don't have hair.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
26 citations,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
2 citations,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
12 citations,
January 2016 in “Endocrinology, diabetes & metabolism case reports” Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
68 citations,
March 1965 in “The BMJ” Hormones and genetics affect hair growth and patterns, with some changes reversible and others not.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
29 citations,
July 2012 in “Fertility and Sterility” Low and ultralow doses of flutamide can cause liver damage in young women with high androgen levels, regardless of dose or birth control use, with higher risk for those with higher BMI and liver enzyme levels before treatment.
11 citations,
January 2015 in “Dermatology” The conclusion suggests a new way to classify bradykinin-mediated angio-oedema based on different causes and its possible link with urticaria, which could improve diagnosis and treatment.
Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.
7 citations,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
6 citations,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
1 citations,
December 2013 in “BMJ case reports” A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
99 citations,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
33 citations,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
1308 citations,
March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
72 citations,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
48 citations,
May 2008 in “Drug Discovery Today: Disease Mechanisms” Hair follicles offer promising targets for delivering drugs to treat hair and skin conditions.
31 citations,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
12 citations,
April 2018 in “Physiology & Behavior” Finasteride raises suicide-linked aggression and stops clozapine's positive effects in schizophrenia animals.
105 citations,
October 2017 in “Stem cells” Wnt signaling is crucial for skin development and hair growth.
47 citations,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
9 citations,
January 2022 in “Biology” Male mice are more susceptible to autism-like changes from valproic acid than female mice.
Meis2 is essential for touch sensation and nerve function in mice.
The transcription factor Meis2 is essential for touch sensation and proper nerve development in touch receptors.
March 2023 in “Journal of Cosmetic Dermatology” A woman's progressive hair loss was correctly diagnosed as a rare condition called fibrosing alopecia in a pattern distribution after initially being mistaken for a more common type.