44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.
2 citations
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October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
105 citations
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October 2018 in “Nature” This study found that vismodegib promotes Basal cell carcinoma regression by inducing tumor differentiation but leaves a small population of quiescent cells that can drive relapse, which can be eliminated by adding a Wnt signaling inhibitor.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers observed that TCDD exposure in mice enhanced sebaceous gland differentiation and lipid production before causing seboatrophy, providing insights into the cellular events that may contribute to chloracne pathogenesis.
32 citations
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January 2000 in “International Journal of Cancer” In this study, the researchers observed significant down-regulation of Transglutaminase-3 expression in esophageal cancer tissues compared to normal tissues, suggesting its alteration is a common event in esophageal cancer development.
October 2025 in “Journal of the Endocrine Society” This case report illustrates a rare instance of mixed germ cell tumor in the pituitary with hyperandrogenism, emphasizing the importance of thorough examination and hormone evaluation in identifying hormonal dysfunctions.
October 2004 in “Australian Prescriber” This review discusses the lack of long-term clinical studies on metformin's cardiovascular benefits in women with polycystic ovary syndrome, highlighting lifestyle changes as a crucial management strategy for reducing associated risks.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers observed significant metabolic dysregulation in central centrifugal cicatricial alopecia, particularly involving lipid metabolism and the downregulation of AMPK-related genes.
10 citations
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December 2015 in “International Journal of Dermatology” This study suggests that basal cell carcinoma and trichoblastoma may share differentiation toward the hair follicle, as indicated by strong positivity in CK 15, follistatin, and Bmi‐1 markers.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
6 citations
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February 2013 in “Medical Oncology” In this study, researchers reported that the SHBG +5790 G>A polymorphism was associated with an increased risk of developing resistance to hormonal castration in advanced prostate cancer patients.
January 2025 in “Nature Communications” This study discovered that calcium dependent protein kinase 1 (CPK1) directly activates cyclic nucleotide-gated channels 5, 6, and 9, promoting root hair growth in Arabidopsis by regulating Ca²⁺ signaling.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
January 2026 in “Biochemical Pharmacology” September 2006 in “Pediatrics in Review” This case report highlights a 16-year-old girl with primary amenorrhea diagnosed with complete androgen insensitivity syndrome after chromosomal analysis revealed a 46,XY karyotype.
January 2007 in “Queen Mary Research Online (Queen Mary University of London)” This study identified interactions between EGF signaling and the GLI proteins in basal cell carcinoma that may contribute to the limited metastasis seen in this skin cancer.
January 2016 in “AACE Clinical Case Reports” In this case report, an embryonal cell carcinoma of the testicle was associated with polycythemia and markedly elevated hormone levels without secondary sexual characteristics, which were restored after treatment.
3 citations
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April 2020 in “Clinical endocrinology and metabolism journal” This review discusses imaging's role in the diagnosis and management of congenital adrenal hyperplasia and reports no new clinical results; it suggests a potential presentation route via incidental radiologic findings.
July 2026 in “Pediatric Allergy and Immunology”
January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
34 citations
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July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study analyzed pediatric and adult patients with antibody deficiencies at a PID center, finding frequent severe infections and genetic mutations, with treatment primarily involving IVIG replacement therapy.
33 citations
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August 2000 in “Experimental Cell Research” June 2026 in “British Journal of Dermatology” In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.
December 2017 in “Journal of Cosmetic Dermatology” This article does not contain an abstract, so it provides no new research findings or clinical results.
20 citations
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January 2017 in “Experimental Dermatology” In this study, deleting the Igf1 receptor in specific skin cells of mice affected hair follicle cycling but not overall skin health, suggesting Igf1r's role in hair cycle regulation through Bmp-4 activation.
11 citations
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March 2014 in “Journal of Investigative Dermatology” In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.