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.
25 citations
,
November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
11 citations
,
October 2023 in “mSphere” PrrH sRNA controls pyochelin production in *Pseudomonas aeruginosa*.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
1 citations
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October 2024 in “Canine Medicine and Genetics” The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
July 2025 in “New Phytologist” MLO proteins help regulate calcium and ROS levels, promoting root hair growth in Arabidopsis.
76 citations
,
January 1998 in “Mammalian Genome”
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
21 citations
,
May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
MIR135b affects wound healing by targeting genes, and PDRN may help heal wounds by altering this pathway.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
MLO proteins are crucial for root hair growth by regulating calcium and ROS levels.
2 citations
,
July 2024 in “Biomedicines” Bone marrow cells improved tendon health better than platelet-rich plasma.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
April 2016 in “Journal of Investigative Dermatology” Mefloquine, an antimalarial drug, is effective in killing melanoma cells resistant to other treatments by causing lethal stress in the cells.
2 citations
,
June 2024 in “Frontiers in Plant Science” LLPS is crucial for RALF signaling, aiding plant growth and stress resilience.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
1 citations
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February 2023 in “Tropical Journal of Pharmaceutical Research” Polysulfonic acid mucopolysaccharide can reduce skin scarring.
May 2015 in “Journal of The American Academy of Dermatology” There's a growing resistance to the antibiotic mupirocin in children's skin infections caused by MRSA in New York.
April 2024 in “Current Rheumatology Reviews” MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
4 citations
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March 2019 in “Journal of Pure and Applied Microbiology” A 940nm laser effectively reduces inflammation in rat joints.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
April 2019 in “Journal of Investigative Dermatology” Combining platelet-rich plasma injections and gel may effectively treat morphea, improving skin elasticity and reducing pain.
April 2023 in “Journal of Investigative Dermatology” MPZL3 protein helps control the size of oil glands and the growth of oil-producing cells in both mice and humans.
April 2025 in “International Journal of General Medicine” The G allele of IFITM3 rs12252 is linked to more severe COVID-19.