7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
5 citations
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
1 citations
,
February 2021 in “Animal biotechnology” Certain changes in the KAP6-1 gene affect the thickness and length of cashmere goat fibers.
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.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
69 citations
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January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.
101 citations
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August 2001 in “The Journal of Cell Biology” A new keratin 6 type in mice explains why some mice without certain keratin genes still have normal hair and nails.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
April 2021 in “Journal of Investigative Dermatology” Krox20 is crucial for hair growth and maintaining skin stem cells.
114 citations
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May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
April 2023 in “Journal of Investigative Dermatology” Krox20 (Egr2) is important for the function of epithelial stem cells.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
303 citations
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October 2000 in “Nature” RXRα is crucial for hair growth and skin cell function.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
3 citations
,
July 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Keratin 17 is important for skin's response to radiation, affecting many genes and cell division.
260 citations
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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.
106 citations
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
132 citations
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February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
9 citations
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November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
May 2006 in “The Journal of Cell Biology” Keratin 17 is crucial for cell growth in wound healing by aiding protein synthesis.
86 citations
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May 2002 in “Journal of Investigative Dermatology” A new keratin, hK6irs1, is found in all layers of the hair follicle's inner root sheath.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
January 2004 in “Molecular biotechnology”