Disease: CREST syndrome
- <em>Sf3b4</em> mutation in <em>Xenopus tropicalis</em> causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development
- A 71-year-old Woman with CREST Syndrome and Multiple Waxy Facial Papules and Plaques: A Quiz
- A Case of Endoscopic Partial Transverse Process and Sacral Alar Resection for Bertolotti's Syndrome and Continued Basketball Playing Two Years After Surgery
- Adaptive introgression reveals the genetic basis of a sexually selected syndrome in wall lizards
- Adrenal Hemorrhage
- Adrenal volumes in fetuses delivering prior to 32 weeks' gestation: An MRI pilot study
- Air Embolism-Induced Ischemic Stroke Following Orthognathic Surgery in a Patient With Goldenhar Syndrome
- Akaluc bioluminescence offers superior sensitivity to track <em>in vivo</em> dynamics of SARS-CoV-2 infection
- Antineutrophil cytoplasmic antibody-associated vasculitis with systemic sclerosis: a fatal case report
- Approaching virtual osteoid volume estimation and in-depth tissue characterization in patients with tumor-induced osteomalacia
- Association of copy number variation in X chromosome-linked PNPLA4 with heterotaxy and congenital heart disease
- Bing Neel syndrome presenting as isolated cranial nerve palsies - a case report
- Brain-derived neurotrophic factor knock-out mice develop non-alcoholic steatohepatitis
- BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation
- BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
- Can Nigerian horse owners effectively estimate body condition and cresty neck scores?
- Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands
- Chronic Exertional Compartment Syndrome of the Lower Extremity: Diagnosis and Surgical Treatment
- Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap
- Clinical Significance of SOX10 Expression in Human Pathology
- Complex Craniosynostosis in Pitt-Hopkins Syndrome: Case Report in Twins
- Correlation and comparison between different measurement sites of waist circumference and cardiovascular risk in children: a systematic review and meta-analysis
- CREST syndrome diagnosed by oral lesions: A case report and review of the literature
- Detection of IgE-autoantibodies to nuclear antigens in patients with systemic sclerosis and analysis of their clinical relevance
- Distal periarterial sympathectomy surgery for chronic digital ischemia: A systematic review of the literature
- Disturbed bone marrow adiposity in patients with Cushing's syndrome and glucocorticoid- and postmenopausal- induced osteoporosis
- Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the <em>NF1</em> gene
- Endothelin signaling in development
- Estrangulated obturatory hernia. Case report of a challenging diagnosis of obstructive syndrome
- Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis
- Fat Embolism: A Rare Complication of Bone Biopsy
- FBLN2 is associated with Goldenhar syndrome and is essential for cranial neural crest cell development
- Functional and Genetic Analyses Unveil the Implication of <em>CDC27</em> in Hemifacial Microsomia
- Functional roles of CD26/DPP4 in lipopolysaccharide-induced lung injury
- Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome
- Genome-scale CRISPR-Cas9 screen identifies host factors as potential therapeutic targets for SARS-CoV-2 infection
- Green nail syndrome in a teenager
- High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome
- Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle
- Human Genetics of Truncus Arteriosus
- Human Malformed Perinatal Anthropological Crania Contribute to New Insight in the Extension of Bone Malformations in Cranial Development
- Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation
- Iliotibial Band Origin Tendinopathy Is an Underrecognized Cause of Anterolateral Hip Pain: A Narrative Review and Clinical Commentary
- Images: Atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive sleep apnea
- Inaugural Patient-Reported Registry of Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome: Presentation, Diagnosis, and Treatment of 194 Patients
- Intestinal epithelium dysfunctions cause IgA deposition in the kidney glomeruli of intestine-specific Ap1m2-deficient mice
- Involvement of SARS-CoV-2 accessory proteins in immunopathogenesis
- Lead Extraction and Baffle Stenting in a Patient with Transposition of the Great Arteries
- Limited Cutaneous Scleroderma: A Case Report
- Long-Term Impact of Renin-Angiotensin System Inhibitors for Secondary Prevention in Patients with Chronic Kidney Disease Who Underwent Percutaneous Coronary Intervention
- Long-term outcomes in patients with primary biliary cholangitis complicated with CREST syndrome
- Longitudinal analysis of genomic mutations in SARS-CoV-2 isolates from persistent COVID-19 patient
- Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea
- MAX germline mutation-associated pheochromocytoma-paraganglioma syndrome: multiple endocrine neoplasia type 5
- Modified gluteus maximus transfer for hip abductor deficiency
- Mowat-Wilson syndrome factor ZEB2 controls early formation of human neural crest through BMP signaling modulation
- Neural Crest
- Neural crest and periderm-specific requirements of Irf6 during neural tube and craniofacial development
- Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants
- Neurofibromatosis Type 1-Retinal Alterations Detectable with Optical Coherence Tomography Angiography
- Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach
- Neuronal DSCAM regulates the peri-synaptic localization of GLAST in Bergmann glia for functional synapse formation
- Neutralizing immunity against coronaviruses in Tanzanian health care workers
- Nipbl Haploinsufficiency Leads to Delayed Outflow Tract Septation and Aortic Valve Thickening
- Outcomes of Surgical Treatment of Vaughan-Jackson Syndrome
- Overexpression of <em>MMACHC</em> Prevents Craniofacial Phenotypes Caused by Knockdown of <em>znf143b</em>
- p53 inhibitor or antioxidants reduce the severity of ethmoid plate deformities in zebrafish Type 3 Treacher Collins syndrome model
- Pheochromocytoma/paraganglioma type 5 syndrome as a cause of secondary hypertension in a Colombian patient: case report
- Piebaldism
- Poor Nutritional Status during Recovery from Acute Myocardial Infarction in Patients without an Early Nutritional Intervention Predicts a Poor Prognosis: A Single-Center Retrospective Study
- Posterior iliac crest low back pain
- Prevalence of insulin dysregulation in the non-obese stock-type horse and relationship with morphometric neck measurements
- Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity
- PTBP1 protects Y RNA from cleavage leading to its apoptosis-specific degradation
- Recombination analysis on the receptor switching event of MERS-CoV and its close relatives: implications for the emergence of MERS-CoV
- Recurrent uveitis in a patient with CREST syndrome: a case report
- Research progress of genetic research on Char syndrome
- RhoG-Binding Domain of Elmo1 Ameliorates Excessive Process Elongation Induced by Autism Spectrum Disorder-Associated Sema5A
- Risk Factors of Metabolic Syndrome among Normal Weight Adolescents in Lagos, Nigeria
- SARS-CoV-2 ORF7a Mutation Found in BF.5 and BF.7 Sublineages Impacts Its Functions
- Schwannian and Perineuriomatous Differentiation in a Series of Giant Congenital Melanocytic Nevi
- Secretion of mitochondrial DNA via exosomes promotes inflammation in Behçet's syndrome
- Sf3b4 mutation in Xenopus tropicalis causes RNA splicing defects followed by massive gene dysregulation that disrupt cranial neural crest development
- Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis
- Skin involvement in CREST syndrome: not only telangiectasias?
- Superior Cluneal Nerve Entrapment as a Cause of Low Back Pain Refractory to Sacroiliac Joint Fusion: A Case Report
- Superior Cluneal Nerve Entrapment Syndrome: Thought to Be Spondylolysis
- Systemic Sclerosis (Scleroderma)
- Targeting Cell Senescence and Senolytics: Novel Interventions for Age-Related Endocrine Dysfunction
- TBC1D24 is likely to regulate vesicle trafficking in glia-like non-sensory epithelial cells of the cochlea
- TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway
- The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function
- The domestication of the larynx: The neural crest connection
- The effect of CREST syndrome in planning a DIEP flap reconstruction
- The Perfect Storm: A Case of Rapid-Onset Obesity With Hypoventilation, Hypothalamic, Autonomic Dysregulation, Neuroendocrine Tumor (ROHHADNET) With Heart Failure, Narcolepsy, and a Rare Location of a Pelvic Neuroendocrine Tumor
- The SH3 binding site in front of the WH1 domain contributes to the membrane binding of the BAR domain protein endophilin A2
- Transcription factor Olig2 is a major downstream effector of histone demethylase Phf8 during oligodendroglial development
- Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish
- Transforming growth factor beta signaling and craniofacial development: modeling human diseases in zebrafish
- Virological characteristics of the SARS-CoV-2 Omicron EG.5.1 variant