January 2025 in “JCEM Case Reports” Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
23 citations
,
August 1975 in “Experimental Biology and Medicine” Copper supplements during pregnancy improve survival and development in mutant mice.
3 citations
,
May 2021 in “Genetics and Biodiversity Journal” Citrullus colocynthis fruit extract has strong antioxidant and cancer-fighting potential.
March 2026 in “Journal of Enzyme Inhibition and Medicinal Chemistry” PROTACs show promise in cancer treatment by effectively degrading specific harmful proteins.
October 2025 in “Journal of the Endocrine Society” Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
May 2025 in “The Journal of Rheumatology” Early diagnosis and treatment are crucial for CAPS, and Eculizumab can be effective.
144 citations
,
May 1990 in “Journal of the American Academy of Dermatology” 8 citations
,
September 1987 in “Acta Dermato Venereologica” Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.
125 citations
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February 1971 in “Biochemistry” Specific cross-linkages help make hair proteins stable and strong.
January 2007 in “Leather Science and Engineering” 33 citations
,
August 2000 in “Experimental Cell Research”
January 2014 in “Progress of Digestive Endoscopy” Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
6 citations
,
February 1997 in “International Journal of Dermatology” Kaposi's sarcoma lesions might originate from benign tissue changes.
26 citations
,
June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
49 citations
,
May 1974 in “Biochimica et Biophysica Acta (BBA) - Protein Structure” Transamidases are present in the epidermis but their exact role is unclear.
3 citations
,
September 1998 in “International Journal of Dermatology” Acitretin effectively improved the woman's skin condition.
January 1995 in “Seoul National University Open Repository (Seoul National University)” SSO helps in skin protection and keratinization.
64 citations
,
March 2004 in “Journal of Clinical Investigation” Targeting ornithine decarboxylase can help prevent skin cancer.
11 citations
,
November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
5 citations
,
January 2021 in “Frontiers in cell and developmental biology” Skin cysts might help advance stem cell treatments to repair skin.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
5 citations
,
March 2019 in “Journal of lipid research” New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
2 citations
,
May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
19 citations
,
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.
1 citations
,
April 2022 in “The Journal of Urology” Both penicillamine and tiopronin have significant side effects, but trying the alternative drug can be beneficial if the first is not tolerated.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
January 2026 in “Beilstein Journal of Organic Chemistry” A new, efficient method creates sulfinimidate esters from sulfenamides and alcohols without metals.
1 citations
,
December 2023 in “Indian Dermatology Online Journal” Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.