January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
8 citations
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July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
14 citations
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January 2011 in “The International Journal of Developmental Biology” This study showed that coexpression of TG2 and Gbx1 in the epidermis is necessary for esophagus-like mucosal transdifferentiation, with TGF-beta2 in the dermis essential for the process through epithelial-mesenchymal interaction.
1 citations
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September 2025 in “The Oncologist” This review discusses the management of adverse events associated with sacituzumab govitecan use in real-world settings and provides no new clinical results; it emphasizes practical strategies for clinicians treating breast cancer patients.
September 1997 in “Dermatologic Surgery” This article discusses Dr. Dow Stough's research on optimizing single-hair transplantation and donor sectioning techniques, but provides no new research findings.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
April 2020 in “Journal of the Endocrine Society” This case report highlights the importance of considering pituitary stalk interruption syndrome as a potential diagnosis for patients with short stature, as early detection may allow those affected to achieve normal height.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
1 citations
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April 2022 in “Indian Journal of Plastic Surgery” This document provides protocols for gender-affirming hormone therapy in India, highlighting the need for research on outcomes and adverse events in adults receiving such therapy; it reports no new results.
January 1977 in “Case Reports in Medicine” This article discusses ovarian steroid cell tumors, which can produce testosterone and manifest symptoms like hirsutism, emphasizing surgery as the primary treatment, but reports no new clinical findings.
May 2024 in “International journal of medicine and psychology.” This review discusses Ganser syndrome as a rare and misunderstood disorder within psychiatric practice, noting its exclusion from the DSM-5 and potential dual origins as organic or psychogenic.
19 citations
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April 2021 in “Stem Cell Research & Therapy” This study found that transplantation of autologous stromal vascular fraction cells increased skin thickness and improved regeneration when combined with mechanical stretching, without severe adverse events.
16 citations
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March 2020 in “Animal Biotechnology” This research explored methods to obtain transgenic sheep embryos expressing synthetic spider silk genes in hair follicles using somatic cell nuclear transfer, with successful in-vitro development observed.
27 citations
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October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
13 citations
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July 1996 in “Annals of Internal Medicine” This article reports the first case of group B streptococcal meningitis in an HIV-positive patient who had previously undergone a splenectomy.
19 citations
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February 2012 in “International Journal of Urology” This review discusses gender identity disorder in Japan, highlighting the high prevalence and challenges in accessing appropriate treatment, and calls for wider understanding among medical professionals.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
21 citations
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January 2000 in “Fetal Diagnosis and Therapy” This study found that trichothiodystrophy can be diagnosed prenatally in the second trimester using an endoscopically-guided fetal eyebrow biopsy, with sulfur content analysis being the most reliable test.
February 2009 in “Journal of The American Academy of Dermatology” Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
January 2022 in “International review of movement disorders” In this review, the authors found that cannabinoids and steroid-related drugs show potential for treating Tourette syndrome, but existing evidence is limited and further research is needed to confirm their efficacy and safety.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that TSPyV T antigens can disrupt normal cell differentiation and proliferation in hair follicles and interfollicular epidermis, possibly contributing to trichodysplasia spinulosa pathology.
In this study, Sox13 was identified as a novel marker for early hair follicle development and differentiation in mice, though it appears to be dispensable for overall epidermal and adnexal development.
38 citations
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March 2015 in “Journal of controlled release” This study found that transfollicular delivery using surfactant-based nanoparticles significantly enhanced antigen stability and immune response compared to other delivery methods, especially when combined with an adjuvant.
August 2023 in “International Journal of Nanomedicine” This study found that a graphene-barium titanate nanosystem can accelerate wound healing by killing bacteria and promoting fibroblast proliferation, demonstrating effectiveness in both Gram-negative and Gram-positive bacteria-infected wounds in mice.
This Phase II trial found that topical GT20029 significantly increased hair count and width at 12 weeks in Chinese men with androgenetic alopecia compared to placebo, with good tolerability and similar adverse event incidence across groups.
January 2014 in “theses.fr (ABES)” In this research, Sertoli cell line model ST38c demonstrated that the androgen receptor regulates hormone pathways through specific coregulators, suggesting roles for SRC-2 and HBO1 in testicular development and androgen responsiveness.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
April 2022 in “Microbiology and Immunology” This study suggests that a specific short sequence repeat in Malassezia restricta may be linked to increased colonization and the development or exacerbation of androgenetic alopecia.
5 citations
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September 2024 in “Stem Cell Research & Therapy” This study found that stem cell transplantation effectively reduced acute inflammation-induced testicular damage, suggesting potential for cell-based therapies in addressing male infertility.