117 citations
,
April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
January 2010 in “Seoul National University Open Repository (Seoul National University)” Lack of Vitamin D receptors can cause hair loss.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
16 citations
,
February 2005 in “British journal of dermatology/British journal of dermatology, Supplement” Lack of Vitamin D receptor changes skin structure and increases certain immune cells in the skin.
77 citations
,
March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
28 citations
,
October 2004 in “Differentiation” A gene deletion causes the "hairless" trait in Iffa Credo rats.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” DKK2 and SOSTDC1 together are necessary for the normal timing of the first regression phase in the hair growth cycle.
33 citations
,
August 2000 in “Experimental Cell Research”
28 citations
,
March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
11 citations
,
August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
49 citations
,
October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
7 citations
,
August 2021 in “Open Access Macedonian Journal of Medical Sciences” The VDR gene polymorphism does not affect BDNF levels in autoimmune thyroiditis and hypothyroidism patients.
77 citations
,
April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
59 citations
,
November 2011 in “Development” Trps1 is essential for proper hair follicle development.
14 citations
,
March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
February 2024 in “Plant Cell Reports” AtVPS29 is essential for proper plant growth by regulating gibberellin signaling.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
36 citations
,
February 2007 in “Journal of biological chemistry/The Journal of biological chemistry” The vitamin D receptor can work without its usual activating molecule.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
4 citations
,
February 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
12 citations
,
February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
98 citations
,
February 2010 in “Dermatology Online Journal” Vitamin D may help treat hair disorders.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.