Disease: Microphthalmia
- <em>Coxiella burnetii</em> inhibits nuclear translocation of TFEB, the master transcription factor for lysosomal biogenesis
- <em>MFRP</em> variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity
- A naturally occurring canine model of syndromic congenital microphthalmia
- An MITF- and mTOR-dependent FLCN pathway suppresses TFE3-driven metastasis in melanoma
- Anti-Melanogenic Activity of Undecylprodigiosin, a Red Pigment Isolated from a Marine <em>Streptomyces</em> sp. SNA-077
- Anti-Melanogenic and Anti-Inflammatory Effects of 2'-Hydroxy-4',6'-dimethoxychalcone in B16F10 and RAW264.7 Cells
- Anti-Melanogenic Effects of <em>Cnidium monnieri</em> Extract via p38 Signaling-Mediated Proteasomal Degradation of Tyrosinase
- Anti-Melanogenic Effects of <em>Takifugu flavidus</em> Muscle Hydrolysate in B16F10 Melanoma Cells and Zebrafish
- Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case
- Bilateral Dacryocystoceles in Congenital Arhinia
- cAMP-Mediated CREM-MITF-TYR Axis Regulates Melanin Synthesis in Pacific Oysters
- Ceramide metabolism alterations contribute to Tumor Necrosis Factor-induced melanoma dedifferentiation and predict resistance to immune checkpoint inhibitors in advanced melanoma patients
- Clinical and pathological characteristics of renal cell carcinomas with MiTF translocation
- Clinical findings in a series of 38 patients with Williams-Beuren Syndrome
- Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report
- Co-Treatment with Phlorotannin and Extracellular Vesicles from <em>Ecklonia cava</em> Inhibits UV-Induced Melanogenesis
- Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients
- Congenital Microphthalmos with Optic Nerve Glioma
- Construction and Identification of a Novel Mice Model of Microphthalmia
- Couching of cataractous lens in microphthalmic eyes with irido-fundal coloboma: revisiting the historical technique
- CRISPR/Cas9-mediated gene disruption determines the roles of MITF and CITED2 in human mast cell differentiation
- Cytocompatibility of electrospun poly-L-lactic acid membranes for Bruch's membrane regeneration using human embryonic stem cell-derived retinal pigment epithelial cells
- Dacryocystocele and Subsequent Dacryocystectomy in a Patient With Bosma Arhinia Microphthalmia Syndrome (BAMS): A Case Report and Review of Literature
- Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration
- Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
- Design and validation of a reporter mouse to study the dynamic regulation of TFEB and TFE3 activity through <em>in vivo</em> imaging techniques
- Determining Asymmetry Thresholds in Anophthalmia/Microphthalmia Using a Three-dimensional Animated Model
- Dilemmas in the management of lacrimal drainage anomalies in BOSMA (congenital arhinia-microphthalmia) syndrome
- Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia
- Double-bubble appearance - Screening of microphthalmic socket with orbital ultrasonography
- Dysregulation of Autophagy Occurs During Congenital Cataract Development in βA3ΔG91 Mice
- Evolutionary conservation of VSX2 super-enhancer modules in retinal development
- Fast freezing inhibits melanin synthesis of melanocytes by modulating the Wnt/β-catenin signalling pathway
- Feedforward cysteine regulation maintains melanoma differentiation state and limits metastatic spread
- Fetal eye ultrasound: Normal anatomy, abnormal findings, and clinical impact
- Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome
- Genomic analysis reveals the association of KIT and MITF variants with the white spotting in swamp buffaloes
- Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome
- High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma
- Hydrolyzed conchiolin protein inhibits melanogenesis through PKA/CREB and MEK/ERK signalling pathways
- Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report
- Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing
- Indian Gooseberry and Barley Sprout Complex Prevent Oxidative Stress and Photoaging of the Skin in Ultraviolet B-Irradiated SHK-I Mice
- Inhibitory Effects of Fermented Sprouted Oat Extracts on Oxidative Stress and Melanin Overproduction
- Interruption of p38<sup>MAPK</sup>-MSK1-CREB-MITF-M pathway to prevent hyperpigmentation in the skin
- Kunzea Ericoides (Kanuka) Leaf Extracts Show Moisturisation, Antioxidant, and UV Protection Effects in HaCaT Cells and Anti-melanogenesis Effects in B16F10 Cells
- Letter about the article "Genes related to hereditary microphthalmia and anophthalmia"
- Long term follow-up of axial length and orbital dimensions in congenital microphthalmia and anophthalmia
- Longitudinal study of microphthalmia in connexin 50 knockout mice using spectral-domain optical coherence tomography
- Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation
- Melanin Inhibitory Effect of <em>Tuber himalayense</em> Isolated in Incheon, Korea
- Melanocyte Density in the Diagnosis of Melanoma In Situ in Sun-Damaged Skin
- Methylsulfonylmethane promotes melanogenesis via activation of JNK in Mel-Ab cells
- Microphthalmia and disrupted retinal development due to a LacZ knock-in/knock-out allele at the Vsx2 locus
- Microphthalmia with multiple ocular abnormalities in a foal
- miR-25-5p in exosomes derived from UVB-induced fibroblasts regulates melanogenesis via TSC2-dominated cellular organelle dysfunction
- MITF regulates the subcellular location of HIF1α through SUMOylation to promote the invasion and metastasis of daughter cells derived from polyploid giant cancer cells
- Mitf, with Yki and STRIPAK-PP2A, is a key determinant of form and fate in the progenitor epithelium of the Drosophila eye
- Molecular characterization of transcription factor CREB3L2 and CREB3L3 and their role in melanogenesis in Pacific oysters (Crassostrea gigas)
- Monoallelic missense variants in MAB21L1 cause a novel autosomal dominant microphthalmia
- Multiple congenital ocular anomalies in three related litters of Jack Russell Terrier puppies
- Myopic Posterior Persistent Fetal Vasculature: A Rare Presentation
- Nanophthalmos-Associated MYRF gene mutation facilitates intraocular inflammation in mice
- Newly identified peptide Nigrocin-OA27 inhibits UVB induced melanin production via the MITF/TYR pathway
- Novel compound heterozygous variants in LTBP2 associated with relative anterior microphthalmos
- Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in <em>TMEM67</em> gene
- O-GlcNAcylation of MITF regulates its activity and CDK4/6 inhibitor resistance in breast cancer
- Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis
- Petanin Potentiated JNK Phosphorylation to Negatively Regulate the ERK/CREB/MITF Signaling Pathway for Anti-Melanogenesis in Zebrafish
- Phenotypic and cytogenetic variability of patau syndrome in Morocco
- Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients
- Postoperative complications and axial length growth after bilateral congenital cataract surgery: eyes with microphthalmos compared to a comparison group
- Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019
- Prevalence and prenatal diagnosis of congenital eye anomalies: A population-based study
- Proteogenomic Workflow for Characterization of Microphthalmia Transcription Factor (MiT) Family Translocation Renal Cell Carcinoma
- Putrescine Upregulates Melanogenesis Through Modulation of MITF Transcription Factor in B16F1 Mouse Melanoma Cells
- Rag-GTPase-TFEB/TFE3 axis controls B cell mitochondrial fitness and humoral immunity independent of mTORC1
- Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1
- Resveratrol-Enriched Rice Callus Extract Inhibits Oxidative and Cellular Melanogenic Activities in Melan-A Cells
- SCG5 and MITF may be novel markers of copper metabolism immunorelevance in Alzheimer's disease
- Semaxanib, a VEGF inhibitor, suppresses melanogenesis by modulating CRTC3 independently of VEGF signaling
- Small Peptide Derived from SFRP5 Suppresses Melanogenesis by Inhibiting Wnt Activity
- Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia
- The impact of substrate stiffness on morphological, transcriptional and functional aspects in RPE
- The lgi-miR-2d is Potentially Involved in Shell Melanin Synthesis by Targeting mitf in Manila Clam Ruditapes philippinarum
- The MITF/mir-579-3p regulatory axis dictates BRAF-mutated melanoma cell fate in response to MAPK inhibitors
- The nutrient-sensing Rag-GTPase complex in B cells controls humoral immunity via TFEB/TFE3-dependent mitochondrial fitness
- The relationship of <em>MITF</em> gene expression and promoter methylation with plumage colour in quail
- Tokishakuyakusan alleviates ultraviolet-induced skin pigmentation by decreasing the expression of melanogenesis-related enzymes
- Tranexamic Acid Ameliorates Skin Hyperpigmentation by Downregulating Endothelin-1 Expression in Dermal Microvascular Endothelial Cells
- Transcriptional and post-translational regulation of MITF mediated by bHLH domain during the melanogenesis and melanocyte proliferation in Crassostrea gigas
- Transcriptional variations at perilesional site in vitiligo patients: probably a fight for cell-survival
- Treatment of metastatic TFE3 microphthalmia transcription factor translocation renal cell carcinoma: a case report
- Trisomy 13 With Bilateral Congenital Anophthalmia: A Case Report
- Unveiling the Potential of Ultrasonic-Assisted Ethanol Extract from <em>Sargassum horneri</em> in Inhibiting Tyrosinase Activity and Melanin Production in B16F10 Murine Melanocytes
- UVB-induced TRPS1 regulates MITF transcription activity to promote skin pigmentation
- Variant ranking pipeline for complex familial disorders
- Vision Development in a Hallermann-Streiff Case with Bilateral Severe Microphthalmia, Cataract and Extensive Retinal Folds
- YTHDF2 Regulates Advanced Glycation End Products-Induced Melanogenesis through Inhibiting A20 Expression in Human Dermal Fibroblasts
- ZEB1 controls a lineage-specific transcriptional program essential for melanoma cell state transitions