May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
10 citations
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October 2010 in “Hepatology” Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
January 2005 in “Life sciences” Targeting LPA could help treat skin disorders.
December 2023 in “Communications biology” Targeting the HEDGEHOG-GLI1 pathway could help treat keloids.
4 citations
,
July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” BLMP-1 is important for regular molting and gene expression cycles in worms.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
The protein's size was reduced, but more work is needed to confirm its function.
January 2025 in “Genetics in Medicine Open” A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
1 citations
,
May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
11 citations
,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin-511 is involved in psoriasis development and can be regulated by cannabinoid receptor type 1.
May 2023 in “Journal of Pakistan Medical Association” People with polycystic ovary syndrome have higher levels of Gremlin-1.
503 citations
,
May 2009 in “Cell stem cell” Lrig1 marks a unique group of stem cells in mouse skin that can become different skin cell types.
October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
November 2018 in “Journal of dermatology & cosmetology” The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
28 citations
,
November 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” GMG-43AC may help reduce unwanted hair growth and treat certain hair loss conditions.
52 citations
,
April 2013 in “Developmental Cell” Brg1 is crucial for hair growth and skin repair by maintaining stem cells and promoting regeneration.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
16 citations
,
September 2018 in “Journal of Molecular Liquids” The PS-b-PAA copolymer nanomicelles are effective for delivering a cancer treatment drug in photodynamic therapy.
3 citations
,
January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
2 citations
,
June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
April 2019 in “Journal of Investigative Dermatology” BRG1 is essential for skin cells to move and heal wounds properly.
43 citations
,
December 2020 in “PLOS Genetics” New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
8 citations
,
March 2024 in “Regenerative Therapy” Delivering IGF-1 with PLGA microspheres improves stem cell regeneration for tissues.
58 citations
,
February 2013 in “Journal of Biological Chemistry” LGR5 mainly stays inside cells, moving to the trans-Golgi network, and this process is important for its role in cell signaling.
8 citations
,
February 2020 in “Journal of Drug Delivery Science and Technology” Encapsulating chlorogenic acid in nanoparticles boosts type 17 collagen production, potentially aiding skin care.