October 2022 in “The American journal of gastroenterology” This case report details a patient with myasthenia gravis and a malignant thymoma whose rising liver function tests, initially thought to be related to antibiotic use, were ultimately attributed to thymoma-associated multiorgan autoimmunity.
36 citations
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January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.
9 citations
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January 1981 This study found that the alkaline degradation process of hair keratin using nucleophilic reagents led to different proportions of reaction products compared to wool, particularly more lanthionine and lysinoalanine residues.
July 2026 in “Frontiers in Immunology” This review summarizes recent findings on the role of lactylation, a novel post-translational modification, in skin diseases, suggesting its potential as a therapeutic target by linking metabolism, epigenetic regulation, and inflammatory processes.
2 citations
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April 2025 in “Plants” This study found that lambertianic acid from Platycladus orientalis leaves may protect against dexamethasone-induced skeletal muscle atrophy by reducing atrophy-related proteins without affecting cell viability.
October 2024 in “Journal of the Endocrine Society” This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.
5 citations
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January 2016 in “Open Journal of Regenerative Medicine” This article describes the potential applications of myoblast implantation for muscle regeneration and its promising social and economic value but reports no new clinical results.
29 citations
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September 1990 in “Biochemical Journal” This study reports the purification of a specific sulphotransferase from rat liver that catalyzes the sulphation of minoxidil, potentially implicating it in minoxidil's bioactivation.
6 citations
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December 2022 in “Anais Brasileiros de Dermatologia” 51 citations
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January 1997 in “PubMed” This review outlines the genetic basis of GABEB, highlighting reduced type XVII collagen as a distinguishing marker from Herlitz JEB, and discusses potential therapeutic avenues without presenting new results.
January 2026 in “Forum Dermatologicum” This study reviewed cases of Graham–Little-Piccardi–Lassueur syndrome and found that topical treatments were generally ineffective, while systemic therapies like prednisone, hydroxychloroquine, and isotretinoin led to partial hair regrowth and disease stabilization, highlighting the importance of early diagnosis and systemic therapy to improve outcomes.
1 citations
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October 2022 in “The American Journal of Gastroenterology” This case study describes a 29-year-old woman whose severe liver injury was primarily attributed to chronic arsenic exposure, highlighting the importance of recognizing metal toxicity in patient care.
4 citations
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October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
11 citations
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April 1991 in “Journal of Veterinary Diagnostic Investigation” In this case report, photosensitization occurred in Shorthorn calves from three herds in Missouri, with skin lesions and mild liver damage, but affected calves recovered within three weeks.
26 citations
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February 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that cutaneous pyridoxal 5'-phosphate hydrolase activity may be carried out by an enzyme different from the classical tissue-nonspecific alkaline phosphatase in human and mouse skin.
12 citations
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September 2011 in “BMJ Case Reports” This case report describes a 2-month-old male with biotinidase deficiency whose seizures and skin symptoms improved dramatically with oral biotin supplementation.
2 citations
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November 2022 in “Skin research and technology” This study found that the p.E402K mutation in the KRT86 gene is a hotspot in Chinese patients with monilethrix, and treatment with 5% topical minoxidil significantly improved hair density and quality.
5 citations
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September 2024 in “Biomolecules and Biomedicine” This study found that total glucosides of paeony (TGP) reduced hair loss and inflammation in alopecia areata mice by inhibiting cellular pyroptosis.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” This study reports that mutations in human L-PGDS affect the entrance and exit of ligands in its binding cavity, suggesting these residues play a role in ligand interaction processes.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
9 citations
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March 2015 in “Journal of Microbiology and Biotechnology” This study found that ultra-high molecular weight poly-γ-glutamic acid promoted hair growth in telogenic C57BL/6 mice by inhibiting 5-alpha reductase activity and inducing the anagen phase.
1 citations
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July 1990 in “PubMed” This case report describes a patient with eosinophilia-myalgia syndrome related to L-tryptophan use, detailing the specific symptoms and laboratory abnormalities observed.
This study found that the survival and proliferation of mouse melanocytes expressing the GNAQQ209L oncogene were impaired by interactions with the epidermal microenvironment, suggesting a possible mechanism for the rarity of these mutations in epidermal melanomas.
January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)” This study found that overexpression of the metabolic enzyme PHGDH can promote cancer initiation and progression, highlighting its significant role in tumor cell proliferation and tumorigenesis.
40 citations
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July 2023 in “Clinical Pharmacology & Therapeutics” This review discusses the progress and challenges of targeted protein degradation therapies, highlighting the increasing number of degraders in cancer clinical trials and the limited diversity in targeted proteins, primarily focusing on those employing CRL4CRBN as the E3 ligase.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
1 citations
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September 2007 in “Neuromuscular disorders” This study suggests that long-term treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may benefit children with SMA types II and III by improving muscle strength and function without significant adverse effects.
10 citations
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January 1992 in “Screening” This study concluded that newborn screening for biotinidase deficiency effectively identified cases and likely prevented irreversible complications from the disorder in some infants.