Disease: Microphthalmia
- (2-Methylbutyryl)shikonin Naturally Occurring Shikonin Derivative Ameliorates the α-MSH-Induced Melanogenesis via ERK1/2 and p38 MAP Kinase-Mediated Down-Regulation of the MITF Transcription Factor
- 'It would help people to help me': Acceptability of digital phenotyping among young people with visual impairment and their families
- <em>PPP1R12A</em>-Related Urogenital and/or Brain Malformation Syndrome
- "Strabismus in children" is not simple - bilateral persistent hyperplasia primary vitreous: a case report
- 2,4,6-Triphenyl-1-hexene, an Anti-Melanogenic Compound from Marine-Derived <em>Bacillus</em> sp. APmarine135
- A 12 Week Fetus with Anophthalmia, Limb Anomalies and Infratemporal Teratoma
- A 29-Year-Old Patient With Patau Syndrome: A Case Report on Medical Management
- A CRISPR-Cas12a-based electrochemical biosensor for the detection of microphthalmia-associated transcription factor
- A founder variant expands the phenotype of WNT7B-related PDAC syndrome
- A naturally occurring canine model of syndromic congenital microphthalmia
- A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2-related congenital adrenal hyperplasia
- Absence of meningeal mast cells in the <em>Mitf</em> mutant mouse
- Aflatoxin B<sub>1</sub> induces infertility, fetal deformities, and potential therapies
- Age and light damage influence Fzd5 regulation of ocular growth-related genes
- Analysis of Chromatin Accessibility Changes Induced by BMMC Recognition of Foot-and-Mouth Disease Virus-like Particles through ATAC-seq
- Anti-Melanogenic Activity of Undecylprodigiosin, a Red Pigment Isolated from a Marine <em>Streptomyces</em> sp. SNA-077
- Apparently X-linked Foveal Hypoplasia of Two Brothers: A Report of a Rare Case
- Associated anomalies in anophthalmia and microphthalmia
- Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome
- Chemical Composition and Skin-Whitening Activities of <em>Siegesbeckia glabrescens</em> Makino Flower Absolute in Melanocytes
- 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
- Conditional Ablation of Spred1 and Spred2 in the Eye Lens Negatively Impacts Its Development and Growth
- Congenital Microphthalmos with Optic Nerve Glioma
- Congenital Toxoplasmosis and Long-term Outcomes
- Correction: A CRISPR-Cas12a-based electrochemical biosensor for the detection of microphthalmia-associated transcription factor
- Couching of cataractous lens in microphthalmic eyes with irido-fundal coloboma: revisiting the historical technique
- CREB Is Indispensable to KIT Function in Human Skin Mast Cells-A Positive Feedback Loop between CREB and KIT Orchestrates Skin Mast Cell Fate
- Dacryocystocele and Subsequent Dacryocystectomy in a Patient With Bosma Arhinia Microphthalmia Syndrome (BAMS): A Case Report and Review of Literature
- De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report
- Design and validation of a reporter mouse to study the dynamic regulation of TFEB and TFE3 activity through <em>in vivo</em> imaging techniques
- DIRAS3 induces autophagy and enhances sensitivity to anti-autophagic therapy in KRAS-driven pancreatic and ovarian carcinomas
- DNA damage remodels the MITF interactome to increase melanoma genomic instability
- Double-bubble appearance - Screening of microphthalmic socket with orbital ultrasonography
- Dysregulation of Autophagy Occurs During Congenital Cataract Development in βA3ΔG91 Mice
- Emerging roles of MITF as a crucial regulator of immunity
- Epimedin B exhibits pigmentation by increasing tyrosinase family proteins expression, activity, and stability
- Ethyl Acetate Fraction from a <em>Catalpa ovata G</em>. Don Extract Inhibits ɑ-MSH-Induced Melanogenesis through the cAMP/CREB Pathway
- Exploring the potential of white birch sap: A natural alternative to traditional skin whitening agents with reduced side effects
- Exposure to phenols reduces melanogenesis in B16F10 cells and zebrafish
- Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome
- Ginsenoside Rf in wild ginseng adventitious roots extract inhibits melanogenesis via cAMP/PKA and NO/cGMP signalling pathways in α-melanocyte-stimulating hormone-stimulated B16F10 mouse melanoma cells and zebrafish
- High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma
- Indian Gooseberry and Barley Sprout Complex Prevent Oxidative Stress and Photoaging of the Skin in Ultraviolet B-Irradiated SHK-I Mice
- Inhibition of α-melanocyte-stimulating hormone-induced melanogenesis and molecular mechanisms by polyphenol-enriched fraction of Tagetes erecta L. flower
- Insight into small eyes: a practical description from phenotypes presentations to the management
- Integrative pharmacology reveals the mechanisms of Erzhi pills, A traditional Chinese formulation, stimulating melanogenesis
- Interruption of p38<sup>MAPK</sup>-MSK1-CREB-MITF-M pathway to prevent hyperpigmentation in the skin
- Long term follow-up of axial length and orbital dimensions in congenital microphthalmia and anophthalmia
- Low-dose imiquimod induces melanogenesis in melanoma cells through an ROS-mediated pathway
- 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
- Melanogrit potentiates melanogenesis by escalating cellular tyrosinase activity and MITF levels via pERK inhibition
- Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report
- Microphthalmos with a myriad of anterior and posterior segment dysgenesis
- Mitf involved in shell pigmentation by activating tyrosinase-mediated melanin synthesis in Pacific oyster (Crassostrea gigas)
- Mitf regulates gene expression networks implicated in B cell homeostasis, germinal center responses, and tolerance
- MITF regulates the subcellular location of HIF1α through SUMOylation to promote the invasion and metastasis of daughter cells derived from polyploid giant cancer cells
- Molecular characterization of transcription factor CREB3L2 and CREB3L3 and their role in melanogenesis in Pacific oysters (Crassostrea gigas)
- Multi-technology integrated network pharmacology-based study on phytochemicals, active metabolites, and molecular mechanism of Psoraleae Fructus to promote melanogenesis
- Newly identified peptide Nigrocin-OA27 inhibits UVB induced melanin production via the MITF/TYR pathway
- Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1
- Novel compound heterozygous variants in LTBP2 associated with relative anterior microphthalmos
- Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis
- Oculo-facio-cardio-dental (OFCD) syndrome: a case report
- Optimization, Metabolomic Analysis, Antioxidant Potential andDepigmenting Activity of Polyphenolic Compounds fromUnmature Ajwa Date Seeds (<em>Phoenix dactylifera</em> L.) Using Ultrasonic-Assisted Extraction
- Pediatric orbital lesions: ocular pathologies
- Phenolic acids in <em>Panax ginseng</em> inhibit melanin production through bidirectional regulation of melanin synthase transcription via different signaling pathways
- Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients
- Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review
- 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
- Primary orbital rhabdoid tumour masquerading as atypical persistent foetal vasculature
- 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
- Restrained Mitf-associated autophagy by Mulberroside A ameliorates osteoclastogenesis and counteracts OVX-Induced osteoporosis in mice
- Revealing mitf functions and visualizing allografted tumor metastasis in colorless and immunodeficient Xenopus tropicalis
- Screening of Key Components for Melanogenesis Inhibition of <em>Polygonum cuspidatum</em> Extract Based on the Spectrum-Effect Relationship and Molecular Docking
- Significant and Various Effects of ML329-Induced MITF Suppression in the Melanoma Cell Line
- Stepwise self-inflating hydrogel expansion for congenital anophthalmia and blind microphthalmia: Over 15 years' experience in China
- Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia
- Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child
- Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
- Targeting phosphorylation circuits on CREB and CRTCs as the strategy to prevent acquired skin hyperpigmentation
- The Co-Existence of Patent Omphalomesenteric Duct and Omphalocele in Patau's Syndrome in Saudi Arabia: A Case Report
- The GATOR2 complex maintains lysosomal-autophagic function by inhibiting the protein degradation of MiT/TFEs
- The impact of substrate stiffness on morphological, transcriptional and functional aspects in RPE
- The inhibition of VDAC1 oligomerization promotes pigmentation through the CaMK-CRTCs/CREB-MITF pathway
- 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 whitening effect of cuscutin responsible for traditional use of Bergenia purpurascens
- Thermodynamic Allosteric Switch-Actuated 3D DNA Nanomachine for Ultrasensitive Electrochemical/Fluorescent Dual-Mode Biosensing of a Transcription Factor
- TMEM216 promotes primary ciliogenesis and Hedgehog signaling through the SUFU-GLI2/GLI3 axis
- 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
- Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects
- Treatment of metastatic TFE3 microphthalmia transcription factor translocation renal cell carcinoma: a case report
- Tribuloside acts on the PDE/cAMP/PKA pathway to enhance melanogenesis, melanocyte dendricity and melanosome transport
- Vision Development in a Hallermann-Streiff Case with Bilateral Severe Microphthalmia, Cataract and Extensive Retinal Folds