Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
October 2023 in “Regular and Young Investigator Award Abstracts” Baricitinib treatment helped reduce hair loss symptoms in mice by decreasing inflammation-related immune cells.
April 2023 in “Journal of clinical and translational science”
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
6 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
2 citations
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August 2024 in “Molecular Genetics & Genomic Medicine” Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
March 2016 in “The Journal of Urology” The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
22 citations
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September 2015 in “Fertility and Sterility” The oral glucose tolerance test is effective in detecting abnormal glucose tolerance in Indian women with PCOS.
Targeting the PGI2 pathway may help heal diabetic foot ulcers.
4 citations
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September 2024 in “Cell Reports” Granulocyte colony stimulating factor helps heal wounds without scars.
21 citations
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September 2021 in “Fertility and Sterility” A blood test level of 3.2 ng/mL of Antimüllerian hormone is good for identifying polycystic ovarian morphology in European women aged 25–45.
9 citations
,
July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
January 1990 in “UCL Discovery (University College London)” The guinea pig α-lactalbumin gene was successfully expressed in the mammary glands of transgenic mice.
2 citations
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September 2024 in “PLoS ONE” Bendamustine combined with tucidinostat may effectively treat adult T-cell leukemia.
30 citations
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June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
2 citations
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June 2012 in “PubMed” The document concludes that central centrifugal cicatricial alopecia (CCCA) should be considered in African American men with vertex hair loss and scalp symptoms, and that prompt diagnosis and treatment can slow disease progression.
174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
35 citations
,
January 2006 in “Cancer Research” Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.
January 2017 in “Clinical & medical biochemistry” Certain gene variations in AKT2 are more common in women with PCOS and are linked to higher levels of specific hormones and symptoms.
29 citations
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June 2014 in “Experimental Cell Research” EGF–FGF2 helps mouse stem cells grow and become more like nerve cells.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
101 citations
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November 2011 in “Nature Communications” Wnt/β-catenin signaling is crucial for cell fusion in placental development.
July 2020 in “Research Square (Research Square)” Selective breeding can enhance immunity in dairy cattle.
28 citations
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February 2007 in “Cancer Research” Blocking certain proteins in mouse skin can reduce and shrink skin tumors.
January 2026 in “Pediatrics International” Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
November 2025 in “Indian Journal of Nephrology” Hair dye may trigger anti-GBM disease relapse, and rituximab can help manage it.