3 citations
,
October 2024 in “Experimental Dermatology” Higher CRHR1 levels in AA patients lead to increased inflammation.
January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
32 citations
,
November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
11 citations
,
August 2014 in “PLoS ONE” GFRα2 is essential for controlling neuron size but not for target innervation in certain sensory neurons.
2 citations
,
July 2013 in “Journal of Life Sciences” A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
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.
January 2024 in “OPAL (Open@LaTrobe) (La Trobe University)” TRPV3 channels are involved in skin processes and are affected by shear stress, influencing itch and mechanotransduction.
August 2016 in “Journal of Investigative Dermatology” Blocking the CCR5 receptor may be a new way to treat hair loss from alopecia areata.
22 citations
,
April 2010 in “Journal of Cellular Biochemistry” Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
September 2017 in “Griffith Research Online (Griffith University, Queensland, Australia)” Blocking IL-17 can reduce joint inflammation in Ross River Virus infections.
January 2024 in “Wiadomości Lekarskie” The ABI1 gene contributes to prostate cancer progression and treatment resistance.
191 citations
,
November 2007 in “Journal of Biological Chemistry” Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
86 citations
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December 2002 in “Tissue Antigens” A specific gene change is linked to severe hair loss.
11 citations
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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.
October 2023 in “Scientific Reports” Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
215 citations
,
September 2003 in “Journal of Biological Chemistry” Vitamin D receptor and hairless protein are essential for hair growth.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking CCR5 can prevent and improve hair loss in alopecia areata.
November 2015 in “Journal of the Korea Academia-Industrial cooperation Society” The new assay can help develop products for hair re-growth.
1 citations
,
January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
71 citations
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
April 2018 in “Journal of Investigative Dermatology” High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.
43 citations
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September 2014 in “Molecular Plant” CLE40 and CRN/CLV2 pathways have opposite effects on root growth in Arabidopsis.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.