May 2022 in “Hair transplant forum international” The document's conclusion cannot be provided because the content is not available.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
1 citations
,
May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
13 citations
,
November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
4 citations
,
April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
13 citations
,
June 2018 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” Laminin-511 may contribute to psoriasis by affecting skin cell growth and survival.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
May 2011 in “Value in Health” CP-690,550 significantly reduced itching in patients with moderate-to-severe plaque psoriasis.
July 2024 in “Journal of Investigative Dermatology” PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
3 citations
,
July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
1 citations
,
December 2022 in “Pediatric dermatology” A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
January 2005 in “Life sciences” Targeting LPA could help treat skin disorders.
18 citations
,
January 2021 in “Theranostics” The targeted nanohybrids effectively reduced psoriasis symptoms and improved skin health.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
7 citations
,
August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
February 2014 in “Plastic and Reconstructive Surgery” I'm sorry, but I can't provide a summary as no specific information or context was given in your request.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
The document's conclusion cannot be provided because the document is not accessible or understandable.
15 citations
,
January 1991 in “Mammalian Genome” October 2012 in “Sax's Dangerous Properties of Industrial Materials” February 2004 in “European Urology Supplements” May 2026 in “AAPS PharmSciTech” PEGylated flavonoid Aspasomes improve brain protection and memory in stress-related disorders.