24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
3 citations
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April 2020 in “Clinical endocrinology and metabolism journal” Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
64 citations
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March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
2 citations
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February 1981 in “Journal of the Royal Society of Medicine” A three-year-old girl survived a rare serious infection caused by BCG vaccination, which improved after treatment with a leprosy drug.
82 citations
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July 2012 in “Brain pathology” High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
1 citations
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February 2023 in “Actas Urológicas Españolas (English Edition)”
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
March 2026 in “Dermatopathology” Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
3 citations
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July 2022 in “Stem Cell Research & Therapy” Turning off a specific gene in stem cells speeds up skin healing by helping cells move better.
16 citations
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September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
28 citations
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November 2019 in “Gene” The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
1 citations
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June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
1 citations
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January 2023 in “In vivo/In Vivo” Box A of HMGB1 can improve stem cell function, aiding anti-aging therapy.
2 citations
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December 2016 in “Experimental cell research” The research found a way to identify and study skin cells with stem cell traits, revealing they behave differently in culture and questioning current stemness assessment methods.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
72 citations
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January 2003 in “American Journal of Pathology” A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
1 citations
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January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
June 2024 in “Benha Journal of Applied Sciences” β1 integrin may indicate and influence the severity of hair loss in androgenetic alopecia.
December 2022 in “Research Square (Research Square)” The QuantAnts machines can find cancer markers and create CRISPR targets for them.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
32 citations
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January 2000 in “International Journal of Cancer” Transglutaminase-3 is often reduced in esophageal cancer.
April 2013 in “Developmental Cell” Brg1 is crucial for keeping hair follicle stem cells and repairing skin, working with the Sonic Hedgehog pathway to promote hair growth.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
10 citations
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July 2021 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” LRIG1 is linked to better survival in Merkel cell carcinoma.
3 citations
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February 2022 in “Frontiers in Genetics” The LncRNA AC010789.1 slows down hair loss by promoting hair follicle growth and interacting with miR-21 and the Wnt/β-catenin pathway.
17 citations
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May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.