9 citations
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December 2002 in “Novartis Foundation Symposium” LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.
18 citations
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December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
15 citations
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January 2014 in “Dermatology” Some patients with a type of skin lymphoma can experience a rare, non-scarring hair loss that looks like another hair loss condition but has distinct features.
24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Elf5 is important for skin stem cell growth and could help treat skin and hair problems.
Calcipotriene ointment improved a child's skin condition known as En coup de sabre.
12 citations
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May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin 332 is essential for normal skin cell behavior and structure.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
60 citations
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September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
7 citations
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March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
6 citations
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July 2021 in “Microbial biotechnology” The combined treatment with engineered bacteria and yellow LED light improved wound healing in mice.
3 citations
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December 2024 in “Journal of Animal Science” LncRNA MSTRG.14227.1 hinders hair follicle development in cashmere goats, affecting cashmere quality.
June 2024 in “Journal of Clinical Oncology” Dalpiciclib is the safest and most satisfying CDK4/6 inhibitor for advanced breast cancer patients in China.
12 citations
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December 2002 in “Archives of Dermatology” Sweet syndrome can be the only sign of hairy cell leukemia relapse.
64 citations
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March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
15 citations
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March 2008 in “The Journal of Dermatology” Topical squaric acid dibutylester worsened discoid lupus erythematosus in a patient.
17 citations
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May 2021 in “Journal of Cell Science” N1-acetylspermidine promotes hair follicle stem cell self-renewal.
13 citations
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May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
28 citations
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December 2018 in “Plant, cell & environment/Plant, cell and environment” A protein called PLC2 is important for the growth and development of plant roots influenced by auxin.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
421 citations
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September 2003 in “Development” Stem cell behavior varies with stimuli, and lineage changes can happen without affecting stem cell division.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
April 2017 in “Journal of Investigative Dermatology” The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
3 citations
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January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.