1 citations
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October 2024 in “Dermatology Practical & Conceptual” This study suggests that RCM may be a promising non-invasive diagnostic tool for alopecia areata incognita, showing substantial agreement with histopathology while noting some discrepancies.
January 2024 in “Wiadomości Lekarskie” In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.
This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation.
June 2026 in “British Journal of Dermatology” In this study, real-world data of 31 patients using ritlecitinib for severe alopecia areata showed that 51% achieved significant hair regrowth after one year, with no serious adverse events reported, emphasizing the importance of considering treatment duration for response.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
7 citations
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September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
84 citations
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September 2008 in “Developmental biology” This study found that cellular retinoic acid-binding proteins and fatty acid-binding proteins are dynamically expressed in skin development and respond differently to retinoic acid, β-catenin, and Notch signaling.
March 2026 in “Mendeley Data” In this study, researchers developed an open-source browser-based tool to enhance the reproducibility and accuracy of SALT score calculations from scalp photos, aimed particularly at assessing partial regrowth in alopecia areata patients on JAK inhibitor therapy.
July 2026 in “Journal of Enzyme Inhibition and Medicinal Chemistry” This review discusses the evolution of Cereblon ligands in PROTAC technology, highlighting chemical innovations that may enhance drug-likeness and applicability in protein degradation, while noting challenges and future research directions.
46 citations
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May 2021 in “Stem Cell Research & Therapy” This study found that strontium ranelate promotes cartilage regeneration in rats by enhancing chondrogenic differentiation of bone mesenchymal stem cells while inhibiting the Wnt/β-catenin signaling pathway.
June 2026 in “Clinical Case Reports” This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.
March 2003 in “Best Practice & Research Clinical Haematology”
68 citations
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April 2014 in “Journal of Molecular Endocrinology” This review summarizes existing knowledge on androgen receptor activity in breast cancer and reports no new clinical findings, with emphasis on therapies targeting androgen signaling in specific BC subtypes.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Robertsonian chromosomal translocations and their prevalence in the population, highlighting their association with infertility, and reports no new clinical results.
13 citations
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March 2021 in “Frontiers in oncology” This review discusses the strong correlation between reflectance confocal microscopy images and horizontal histopathology in diagnosing skin tumors, highlighting the reliability of this non-invasive technique; no new clinical results are reported.
July 2021 in “Veterinary record/The veterinary record” This report from SRUC VS highlighted a suspected case of Schmallenberg virus infection in a calf born to an imported heifer, noting consistent clinical signs and seroconversion in the dam.
September 2025 in “International Society of Hair Restoration Surgery” This article discusses governance updates by the American Board of Hair Restoration Surgery to improve transparency and professionalism, but it reports no new research findings.
32 citations
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July 2018 in “FEBS letters” In this study, researchers identified the CBL1-CIPK26 Ca 2+ sensor-kinase complexes as key modulators of the NADPH oxidase RBOHC crucial for root hair differentiation in plants.
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
9 citations
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January 2017 in “Food & Nutrition Research” In this study, rice bran mineral extract increased expression of anagen-related proteins and decreased inflammatory markers in human dermal papilla cells, suggesting potential for hair growth enhancement and prevention of hair loss.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” This study provided the first X-ray crystal structure of the mammalian steroid hormone reductase AKR1D1 and identified a disease-related mutant, P133R, which may impact bile acid metabolism and cause clinical symptoms.
3 citations
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May 1999 in “Dermatologic Surgery” Dr. Connelly agrees that linear basal cell carcinomas might be more aggressive but highlights the study's lack of clear criteria to identify them.
7 citations
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January 2015 in “Biological & Pharmaceutical Bulletin” This study found that a 16-week dermal application of rice bran extract significantly increased hair density and diameter in male androgenic alopecia patients without causing adverse reactions.
15 citations
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November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
November 2023 in “Frontiers in pharmacology” This review highlights the ongoing need for novel treatments for autosomal recessive congenital ichthyoses, suggesting that drug repositioning, utilizing existing medications or biologics, could provide more affordable and effective options for managing this lifelong skin condition.
26 citations
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September 2012 in “Cell Reports” In this study, knockout of B-raf and C-raf genes in mice showed they are not needed for early melanocyte development, but are crucial for maintaining melanocyte stem cells, as evidenced by hair graying due to stem cell depletion.
January 2024 in “Genetics in Medicine Open” In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
1 citations
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January 2012 In this study, the researchers cloned and analyzed the CRABP I gene in Inner Mongolian cashmere goats, finding its highest mRNA expression at 90 days in embryo skin compared to later stages.