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research Novel missense mutation in the EDA gene in a family affected by oligodontia
This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
research PSAT097 Patient Preference Research: Preferred Adjunctive Medication Attributes of Adult Patients with Classic Congenital Adrenal Hyperplasia
This study found that US adults with classic congenital adrenal hyperplasia most preferred a hypothetical adjunctive therapy that prevents glucocorticoid-induced weight gain over other potential benefits.
research BUZZ: an essential gene for postinitiation root hair growth and a mediator of root architecture in Brachypodium distachyon
This research identified a genetic mutation in Brachypodium distachyon that initially allows root hair initiation but fails to elongate them, while also affecting root growth and nitrate sensitivity; the mutation is linked to a previously uncharacterized cyclin-dependent kinase-like gene.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
research HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond
This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
research A notch above bowl: Specification of niche cells in the Drosophila testis
In this study, researchers investigating the Drosophila testis niche system reported that Notch signaling is crucial for niche cell specification, with early gonadogenesis showing signals coming from outside the gonad to direct cell fate.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
research Experimental and Clinical Efficacy of Two Hyaluronic Acid-based Compounds of Different Cross-Linkage and Composition in the Rejuvenation of the Skin
This study found that combining Aliaxin® Global Performance with Viscoderm® Skinkò E improved hydration and appearance of nasolabial folds more effectively than using Aliaxin® Global Performance alone.
research Toxicity Assessment of a Single Dose of Poly(ethylene glycol) Diglycidyl Ether (PEGDE) Administered Subcutaneously in Mice
In this study, PEGDE above 10,000 μg/mouse caused subcutaneous toxicity including ulceration in mice, but did not affect liver, spleen, or kidney tissues.
research Understanding the Association Between Mental Health and Hair Loss
In this literature review, it was reported that mental health disorders may both contribute to and be exacerbated by various types of hair loss, and an interdisciplinary treatment model is recommended for effective diagnosis and patient care.
research Quantitative and qualitative analysis of individual experiences post botulinum toxin injection ‐ United Kingdom Survey
This study surveyed UK patients who experienced adverse events from Botulinum Toxin for cosmetic purposes, finding 79% reported issues like long-lasting anxiety, and highlighting low awareness of regulatory bodies and reporting structures.
research Post‐Finasteride Syndrome or Pre‐Existing Vulnerability? Rethinking Patient Selection
This research emphasizes the importance of integrating pre-treatment psychological assessments for individuals considering finasteride, highlighting that these assessments could help identify those prone to nocebo responses, potentially reducing adverse symptom development more related to cognitive vulnerabilities than to the drug itself.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
research Dimensions of drug information
This study introduced a pre-formal ontology matching approach using 39 identified dimensions to integrate drug information, improving database normalization and supporting complex use cases.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
research One of These Things Is Not Like the Others: The Idea of Precedence in Health Technology Assessment and Coverage Decisions
This article describes a framework for evaluating new health technologies by integrating quantitative evidence with qualitative assessments and using precedents to guide policy decisions, without reporting new clinical results.
research Index
This article provides a reference guide for various dermatological terms, treatments, and conditions, but reports no new clinical findings.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
This article discusses the history and understanding of Tay syndrome, recognizing it as a distinct condition related to ichthyotic erythroderma, mental retardation, and brittle hair but reports no new clinical results.
research ANALYSIS OF ADVERSE DRUG REACTIONS (ADRs) AND THEIR SEVERITY IN BREAST CANCER PATIENTS TREATED WITH THE DOCETAXEL-DOXORUBICIN REGIMEN AT SULTAN AGUNG ISLAMIC HOSPITAL
This study found that breast cancer patients treated with the docetaxel-doxorubicin regimen experienced various adverse drug reactions, with nausea being the most common and mainly mild in severity.
research DataSheet4_BBS7–SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis.csv
This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
research Agglomerative clustering-based drugs graded for the risk signals of drug-induced cognitive disorder: a study on the FAERS database
This study developed a new clustering model to improve detection of drug-induced cognitive disorder risk signals, finding that it identified drugs with moderate risk signals, like Carbidopa/Levodopa, missed by traditional methods, enhancing clinical assessment comprehensiveness.
research Nutritional Niche Construction and Local Adaptation: The Aquatic Resource-Driven Hypothesis of EDAR V370A in East Asia
In this study, researchers propose that the EDAR V370A allele's positive selection in East Asian populations may be linked to stable aquatic resources from Late Pleistocene ecosystems in northern China, suggesting a "nutritional niche construction" framework where these resources offset the allele's metabolic costs.
research Nutritional Niche Construction and Local Adaptation: The Aquatic Resource-Driven Hypothesis of EDAR V370A in East Asia
This study presents a hypothesis that the EDAR V370A allele was positively selected in East Asian populations due to the stable aquatic resources in Late Pleistocene northern China, which may have offset the allele's metabolic costs and provided a selective advantage.
research Cytotoxicity of bendamustine, alone and in combination with novel agents, toward adult T-cell leukemia cells
This study suggests that combining bendamustine with tucidinostat may improve survival in patients with relapsed or refractory adult T-cell leukemia/lymphoma, highlighting its potential for clinical investigation.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.
research Equine Cushings Disease - PPID
This source explains that Equine Cushing’s disease, or PPID, in horses is due to the degeneration of brain cells producing dopamine, leading to elevated cortisol levels and characteristic symptoms; it outlines diagnosis methods and emphasizes life-long pergolide treatment to manage the condition.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
This case report documents a 63-year-old with Birt-Hogg-Dubé Syndrome who developed choroidal melanoma alongside multiple lid folliculomas, marking the first known association of these conditions.