76 citations
,
May 2011 in “Liver transplantation” Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
30 citations
,
September 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.
30 citations
,
June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
13 citations
,
April 2012 in “Clinical and Experimental Dermatology” Laser hair-comb therapy doesn't improve male-pattern hair loss.
74 citations
,
June 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
42 citations
,
May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
29 citations
,
June 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
13 citations
,
February 2010 in “Journal of Dermatological Science” A gene mutation causes woolly hair in a Syrian patient.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
181 citations
,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
111 citations
,
April 2007 in “Seminars in cell & developmental biology” Hair, teeth, and mammary glands develop similarly at first but use different genes later.
66 citations
,
January 2001 in “Vitamins and hormones” Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
64 citations
,
September 2019 in “Circulation” ADT, especially enzalutamide, may increase the risk of heart rhythm problems and sudden death in men.
48 citations
,
July 2008 in “Acta Biochimica et Biophysica Sinica” Wnt signaling is important for development and cell regulation but can cause diseases like cancer when not working properly.
24 citations
,
April 2018 in “Experimental Dermatology” Treg dysfunction is linked to various autoimmune skin diseases, and understanding Treg properties is key for new treatments.
18 citations
,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
17 citations
,
November 2019 in “Archives of Cardiovascular Diseases” Low testosterone in men is a risk factor for a specific heart rhythm issue, and testosterone treatment may help prevent it.
17 citations
,
April 2018 in “Molecular and Cellular Endocrinology” Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
17 citations
,
September 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
15 citations
,
September 2007 in “Cell & tissue research/Cell and tissue research” Embryonic and adult stem cells are valuable for improving skin grafts and cell therapy.
7 citations
,
March 2017 in “Journal of dermatology” The conclusion is that accurately identifying folliculosebaceous tumors requires understanding their clinical signs and microscopic features.
4 citations
,
April 2021 in “Experimental and Molecular Medicine” The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
2 citations
,
January 2014 in “Springer eBooks” The book details skin conditions in older adults, their link to mental health, cancer treatment importance, hair loss remedies, and managing autoimmune and itchy skin.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
2 citations
,
November 2004 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
1 citations
,
October 2016 in “Journal of Dermatological Science” FGF18 treatment during hair's resting phase can protect against hair loss from radiation.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
September 2023 in “Frontiers in bioengineering and biotechnology” JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.