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.
224 citations
,
March 2006 in “Seminars in Cutaneous Medicine and Surgery” The document concludes that understanding hair follicle biology can lead to better hair loss treatments.
139 citations
,
February 2010 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Transplant success has improved with better immunosuppressive drugs and donor matching.
132 citations
,
August 2012 in “Biochimica et Biophysica Acta (BBA) - General Subjects” TGF-β signaling is crucial for stem cell maintenance, differentiation, and has implications for cancer treatment.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
83 citations
,
August 2014 in “PLoS ONE” All adults have Demodex mites, which vary by region.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
62 citations
,
August 2014 in “BMC Endocrine Disorders” New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
53 citations
,
August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
43 citations
,
August 2018 in “Cell Stem Cell” Hoxc genes control hair growth through Wnt signaling.
41 citations
,
June 2013 in “PLOS ONE” Engineered skin substitutes can grow hair but have limitations like missing sebaceous glands and hair not breaking through the skin naturally.
41 citations
,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
38 citations
,
January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
38 citations
,
June 2003 in “Journal of Investigative Dermatology Symposium Proceedings” Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.
32 citations
,
February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
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.
29 citations
,
November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
29 citations
,
May 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.
26 citations
,
December 2017 in “Journal of Investigative Dermatology” Disrupting Notch signaling in blood vessels increases scarring during wound healing in mice.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
26 citations
,
December 1999 in “Journal of Investigative Dermatology” Certain genes are linked to wool follicle structure and function, but not hair cycle regulation.
25 citations
,
May 2013 in “Journal of mammary gland biology and neoplasia” Hedgehog signaling is crucial for mammary gland development over hair follicles.
25 citations
,
March 2012 in “Journal of Dermatological Science” Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
25 citations
,
September 2006 in “Birth Defects Research” Different processes create patterns in skin and things like hair and feathers.
24 citations
,
October 2019 in “Genes” A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
23 citations
,
February 2021 in “Journal of Endocrinological Investigation” Betacoronaviruses, like COVID-19, may cause hormone system dysfunction and affect disease susceptibility and severity.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
18 citations
,
October 2023 in “Nature Communications” Men with baldness are more prone to skin cancers on the scalp due to sun exposure, not testosterone.