69 citations
,
December 2015 in “BMC plant biology” Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
22 citations
,
January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
5 citations
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May 2018 in “Veterinary dermatology” Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
23 citations
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November 2024 in “Nature”
31 citations
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July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
1 citations
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November 2011 in “Turkish Journal of Dermatology” Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
19 citations
,
February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
August 2023 in “Dermatology reports” A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
September 2025 in “Wound Repair and Regeneration” GLP-1 receptor agonists may help manage and prevent diabetic foot ulcers.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
2 citations
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October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
January 2024 in “International journal of molecular sciences” A brain-made hormone can protect against memory-related brain damage caused by harmful proteins.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
118 citations
,
June 1993 in “Journal of Biological Chemistry” Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
3 citations
,
December 2024 in “Stem Cell Reports” Low fucosylation boosts stem cell growth in the eye.
17 citations
,
May 2014 in “Cell transplantation” Genetically modified stem cells from human hair follicles can lower blood sugar and increase survival in diabetic mice.
2 citations
,
August 2004 Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
7 citations
,
April 1992 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Women with non-classical congenital adrenal hyperplasia have higher levels of certain steroids, which can be reduced by treatment.
3 citations
,
October 2021 in “Turkish Journal Of Neurology” Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
17 citations
,
February 2019 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” AKR1D1 controls glucocorticoid levels and receptor activity in liver cells.
83 citations
,
July 2008 in “Current Opinion in Chemical Biology” The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.
January 2008 in “US endocrinology” Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
6 citations
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July 2021 in “Frontiers in Genetics” A gene variant causes a skin and hair disorder by disrupting protein balance.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
11 citations
,
March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
36 citations
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January 2018 in “Scientific reports” Eating glucoraphanin can help prevent psychosis in offspring whose mothers had immune system activation.
18 citations
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June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.