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research N‑K GM SERIES: COMPLETE GEOMETRIC MEDICINE FOR SUDAN AND THE AFLATOXIN BELT — A Unified Solution for Aflatoxin Poisoning, Cancer, and Public Health Transformation
This study reports a novel geometric medicine solution, N‑K GM SERIES, claiming to eliminate aflatoxin, offer a universal cancer cure, and provide numerous health benefits, including increased life expectancy, with deployment focused on the "Aflatoxin Belt" regions like Sudan.
research A novel 22-bp InDel within FGF7 gene is significantly associated with growth traits in goat
This study found that a 22-bp InDel polymorphism in the FGF7 gene was significantly associated with growth traits in goats, with genotypes ID and/or II linked to better growth compared to genotype DD, indicating its potential as a molecular marker in breeding programs.
research MEGA PROTAC, MEGA DOCK-based PROTAC mediated ternary complex formation pipeline with sequential filtering and rank aggregation
This study found that MEGA PROTAC improved the prediction of ternary structures with higher maximum DockQ scores compared to the BOTCP method in 16 out of 22 test cases.
research Antimüllerian hormone to determine polycystic ovarian morphology
This study found that the Elecsys AMH Plus immunoassay with a cutoff of 3.2 ng/mL is effective for diagnosing polycystic ovarian morphology, showing high sensitivity and specificity across different PCOS phenotypes.
research Diagnostic utility of serum anti-Müllerian hormone in different phenotypes of polycystic ovary syndrome: a case-control study from a tertiary care centre
This study found that serum Anti-mullerian hormone (AMH) levels are significantly elevated in women with polycystic ovary syndrome and can serve as a useful biomarker for diagnosis, especially when ultrasonography is unavailable.
research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment
This study found that PRC2 plays a crucial role in maintaining intestinal homeostasis by supporting progenitor cell proliferation and limiting secretory lineage differentiation.
research Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening
Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
research GABRA2 Alleles Moderate the Subjective Effects of Alcohol, Which are Attenuated by Finasteride
GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
research Conjoint analysis of methylation, transcriptomic, and proteomic profiles in pemphigus vulgaris
Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
research The effect of GGC and CAG repeat polymorphisms on the androgen receptor gene in response to finasteride therapy in men with androgenetic alopecia
This study found that a lower number of GGC sequences in the androgen receptor gene was associated with better clinical response to finasteride in male androgenetic alopecia patients.
research Granulomatous skin involvement in a patient with an unusual NOD2 mutation
This case study describes a 54-year-old man with an E600A mutation in the NOD-2 gene associated with Blau syndrome, who presented with skin involvement, differing from typical cases, and initially responded to colchicine treatment.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.
research Two cases of low-prostate-specific antigen localized prostate cancer incidentally detected by computed tomography
This study reports two cases where localized prostate cancer with low PSA levels was incidentally detected through CT scans performed for other medical reasons.
research Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
This case report describes a possible association between Vogt-Koyanagi-Harada disease and linear IgA/IgG bullous dermatosis in a 35-year-old Japanese male, though coincidence cannot be ruled out.
research Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers
This review discusses managing prostate cancer in patients with high-risk germline mutations and highlights the need for more research and consensus guidelines, reporting no new clinical results.
research Abstract C4: Sp2: A regulator of stem cell differentiation and tumorigenesis
This study suggests that over-expression of Sp2 may limit stem cell differentiation and contribute to tumorigenic cell growth in mice.
research 486 Molecular Mechanisms of Type II Spiral Ganglion Neuron Development
research FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation
This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
research Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations
This case report of an infant with AEC syndrome highlights the importance of early and aggressive management of ocular complications to preserve vision and reduce the risk of amblyopia.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
research Ornithine decarboxylase is a target for chemoprevention of basal and squamous cell carcinomas in Ptch1+/– mice
In this study, overexpression of ornithine decarboxylase accelerated basal cell carcinoma in Ptch1+/– mice under UVB exposure, while its inhibition reduced tumor induction, suggesting potential chemoprevention strategies in humans.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
research Structures of three polycystic kidney disease-like domains fromClostridium histolyticumcollagenases ColG and ColH
This study reports that Ca 2+ binding alters the dynamics and surface properties of PKD-like domains in Clostridium histolyticum collagenases, enhancing their stability and potentially aiding in collagen-targeting vehicle development.
research Histochemical and Immunohistochemical Markers for Human Eccrine and Apocrine Sweat Glands: An Aid for Histopathologic Differentiation of Sweat Gland Tumors
This review examines histochemical and immunohistochemical markers to differentiate apocrine and eccrine sweat glands, highlighting their distinct markers, though it reports no new clinical findings.