Disease: CREST syndrome
- <em>phox2ba:</em> The Potential Genetic Link behind the Overlap in the Symptomatology between CHARGE and Central Congenital Hypoventilation Syndromes
- <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 homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2
- Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant
- Adaptive introgression reveals the genetic basis of a sexually selected syndrome in wall lizards
- Adrenal Hemorrhage
- Adrenal steroid metabolites and bone status in patients with adrenal incidentalomas and hypercortisolism
- 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
- BILATERAL CAROTID BODY PARAGANGLIOMAS - LITERATURE REVIEW AND COMMENTS IN A PATIENT WITH NO SIGNS OF MEN SYNDROME
- Blood Lymphocyte Subsets and Proinflammatory Cytokine Profile in ROHHAD(NET) and non-ROHHAD(NET) Obese Individuals
- 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?
- Cardiorenal damages in mice at early phase after intervention induced by angiotensin II, nephrectomy, and salt intake
- Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline <em>VHL</em> mutation (c.414A>G) and a novel <em>KIF1B</em> gene mutation
- Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c.414A>G) and a novel KIF1B gene mutation
- 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
- Comparative pathogenicity of SARS-CoV-2 Omicron subvariants including BA.1, BA.2, and BA.5
- Complex craniosynostosis in Pitt-Hopkins Syndrome: Case report in twins
- Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes
- CREST syndrome diagnosed by oral lesions: A case report and review of the literature
- De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
- 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
- Efficacy of hemoporfin-mediated photodynamic therapy in treating Sturge-Weber syndrome associated port-wine stains: A retrospective study
- Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors
- Endothelin signaling in development
- Estrangulated obturatory hernia. Case report of a challenging diagnosis of obstructive syndrome
- Fat Embolism: A Rare Complication of Bone Biopsy
- Functional roles of CD26/DPP4 in lipopolysaccharide-induced lung injury
- G9a inactivation in progenitor cells with Isl1-Cre with reduced recombinase activity models aspects of Dandy-Walker complex
- 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 stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation
- Images: Atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive sleep apnea
- Impact of Imprinted Immunity Induced by mRNA Vaccination in an Experimental Animal Model
- Impulse-Control Disorders and Restless Leg Syndrome in Parkinson's Disease: Association or Coexistence
- In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype
- Insights Into Clinical Outcomes of Acute Pancreatitis With Concomitant Acute Myocardial Infarction Using the National Inpatient Sample Database
- L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice
- Limited Cutaneous Scleroderma: A Case Report
- Lineage-Specific Induced Pluripotent Stem Cell-Derived Smooth Muscle Cell Modeling Predicts Integrin Alpha-V Antagonism Reduces Aortic Root Aneurysm Formation in Marfan Syndrome Mice
- Long-Term Impact of Renin-Angiotensin System Inhibitors for Secondary Prevention in Patients with Chronic Kidney Disease Who Underwent Percutaneous Coronary Intervention
- 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
- Low Energy Availability and Increased Risk of Relative Energy Deficiency in Sport (RED-S) During a 3767-km Thru-Hike on the Pacific Crest Trail: A Case Study
- Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS-derived melanocytes
- Mowat-Wilson syndrome factor ZEB2 controls early formation of human neural crest through BMP signaling modulation
- Multiple Sclerosis Is Associated With Achalasia and Diffuse Esophageal Spasm
- Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants
- 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
- Occurrence of equine metabolic syndrome, clinical manifestations, and associated risk factors in Nigeria
- 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
- Pax3 deficiency diminishes melanocytes in the developing mouse cochlea
- 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
- Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity
- Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation, and Neuroendocrine Tumor (ROHHADNET) Syndrome: A Case Report
- 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
- RhoG-Binding Domain of Elmo1 Ameliorates Excessive Process Elongation Induced by Autism Spectrum Disorder-Associated Sema5A
- Risk factors for cancer in patients with primary biliary cholangitis and autoimmune hepatitis and primary biliary cholangitis overlap syndrome
- 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
- 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 analyses and host genetics highlight the role of innate immune cells in COVID-19 severity
- 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
- Targeting Cell Senescence and Senolytics: Novel Interventions for Age-Related Endocrine Dysfunction
- TFAP2 paralogs regulate midfacial development in part through a conserved <em>ALX</em> genetic pathway
- TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway
- The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import
- 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
- The spontaneous mouse mutant low set ears (Lse) is caused by tandem duplication of Fgf3 and Fgf4
- 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
- Transcriptomic analysis reveals the role of SIX1 in mouse cranial neural crest patterning and bone development
- Transforming growth factor beta signaling and craniofacial development: modeling human diseases in zebrafish
- Treacher Collins Syndrome Associated with Disproportionate Nervous System, Cardiovascular, Otologic Complications Among 1,114 Patients
- Ultrasonography-based diagnosis of hemorrhage syndrome in adipose tissues in the crest of the neck of heavy horse breeds