September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
January 2023 in “Brazilian Journals Editora eBooks” HPLC may detect prediabetes and diabetes earlier than Immunoturbidimetry because it shows higher A1c levels.
91 citations
,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
3 citations
,
March 2019 in “American Journal of Dermatopathology” Recognizing rare tumor combinations is crucial for accurate diagnosis and treatment.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
January 2019 in “Springer eBooks” Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
21 citations
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June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
56 citations
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December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
33 citations
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March 2015 in “Experimental Dermatology” LHX2 and SOX9 identify unique hair follicle cell groups, crucial for hair maintenance.
The document suggests using convalescent plasma to treat COVID-19 Long Hauler Syndromes because it may contain beneficial elements that target the virus.
14 citations
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January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
4 citations
,
May 2009 in “Clinical and experimental dermatology” Flexural follicular lichen planus is a rare skin condition affecting body folds.
November 2025 in “Cancer Cell International” Cancer-associated fibroblasts promote tumor growth in skin cancer.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
24 citations
,
November 2015 in “Annals of Nutrition and Metabolism” Certain SHBG gene variants, like rs727428, are linked to higher testosterone levels in women with PCOS.
2 citations
,
October 2024 in “Phenomics”
11 citations
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August 2010 in “Pediatric dermatology” Tacalcitol cream effectively and safely treated a rare skin condition called Lichen Spinulosus in two cases.
3 citations
,
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” ILC1 cells contribute to hair loss in alopecia areata.
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.
January 2020 in “International Journal of PharmTech Research” A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
April 2024 in “Skin research and technology” VLDL could be an early warning sign for male pattern baldness.
8 citations
,
February 2022 in “Frontiers in Medicine” COVID-19 may trigger severe skin flare-ups in people with autoimmune conditions like lupus.
25 citations
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August 2020 in “Experimental eye research/Experimental Eye Research” Different types of cells in the eye express specific keratins at various stages of development.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.