16 citations
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July 2012 in “The New England Journal of Medicine” The patient was diagnosed with anorexia nervosa and severe malnutrition, requiring urgent refeeding and monitoring.
4 citations
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December 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Overactive Wnt signaling in mouse skin stem cells causes acne-like cysts and shrinking oil glands, which some treatments can partially fix.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
January 2005 in “Zhonghua xingwei yixue yu naokexue zazhi” Selenium and iodine deficiencies cause delayed growth and abnormal neural behavior in rats.
32 citations
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June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
1 citations
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September 2002 in “European Journal of Endocrinology” Triple H syndrome exists and can vary in symptoms.
8 citations
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April 2014 in “Practical Diabetes” Feeling shame can make it harder for people with diabetes to take care of their health.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
2 citations
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May 2021 in “Scientific Reports” Stress is likely causing hair loss in Formosan macaques.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
16 citations
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January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.
3 citations
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September 2014 in “SpringerPlus” Human hair loss may have evolved to help increase brain size.
3 citations
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May 2023 in “Frontiers in immunology” Faulty inflammasome activation may lead to autoimmune skin diseases and could be a target for new treatments.
9 citations
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February 2024 in “mBio” Biliverdin IXβ and IXδ help Pseudomonas aeruginosa adapt to chronic infections.
April 2019 in “Journal of Investigative Dermatology” Removing REDD1 in mice increases skin fat by making fat cells larger and more numerous.
31 citations
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September 2012 in “Human Brain Mapping” People with Seasonal Affective Disorder have different brain activity in certain areas when resting.
5 citations
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June 1995 in “Comparative biochemistry and physiology. Part C. Comparative pharmacology and toxicology/Comparative biochemistry and physiology. C. Comparative pharmacology and toxicology” Removing mink's adrenal glands causes their summer fur to grow earlier.
4 citations
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June 2005 in “British Journal of Dermatology” People often underestimate hair loss severity, with fewer seeking treatment, and it's more distressing for women.
8 citations
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August 2019 in “ACR Open Rheumatology” Defective repair processes may cause immune activation and inflammation in psoriatic disease.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
19 citations
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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.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
5 citations
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June 2022 in “Frontiers in veterinary science” Improving how drugs are absorbed through the skin could better treat mange in wombats.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
January 2022 in “International Journal of Biology Pharmacy and Allied Sciences” Autoimmune diseases cause the immune system to attack the body, and management varies as some are curable and others are not.
December 2021 in “International Journal of Biology Pharmacy and Allied Sciences” Autoimmune diseases cause the immune system to attack the body, and management varies as some are curable and others are not.
11 citations
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August 2021 in “Stem Cell Research & Therapy” Pimecrolimus reduces the effectiveness of stem cell therapy for atopic dermatitis.
42 citations
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April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.