14 citations,
June 2022 in “BMC genomics” Key genes crucial for sheep hair follicle development were identified, aiding fine wool breeding and human hair loss research.
1 citations,
March 2023 in “Nutrients” The conclusion is that obesity should be managed with a slow, balanced approach to diet and exercise, with medication and surgery as additional options, and education and access to care are important.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
41 citations,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
20 citations,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
September 2023 in “Frontiers in bioengineering and biotechnology” JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
96 citations,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
35 citations,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
34 citations,
July 2009 in “Journal of Cell Science” ΔNp63α helps control a protein that stops cancer cells from spreading.
30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
14 citations,
March 2014 in “Journal of The American Academy of Dermatology” Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
2 citations,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
1 citations,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin healing from blisters can delay hair growth as stem cells focus on repairing skin over developing hair.
2 citations,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
39 citations,
November 2021 in “Clinical Endocrinology” Testosterone replacement is recommended for men with low testosterone levels and symptoms of hypogonadism.
22 citations,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
12 citations,
January 2013 in “Indian dermatology online journal” The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
10 citations,
June 2021 in “EMBO reports” When skin blisters, healing the wound is more important than growing hair, and certain stem cells mainly fix the blisters without helping hair growth.
4 citations,
May 2018 in “Türk pediatri arşivi : İstanbul çocuk kliniği dergisi” Oral retinoic acid effectively treated collodion baby, with hair loss as the main side effect.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
62 citations,
April 2008 in “Neurobiology of aging” Scientists found a gene in mice that causes early hearing loss.
52 citations,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.