Results 41 to 50 of about 16,672 (213)
FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches [PDF]
, 2017 Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published.
Cirillo, Emilia +3 more
core +1 more source
The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding
Animal Research and One Health, EarlyView.A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang +10 more
wiley +1 more source
Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus [PDF]
, 2011 Background Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions.
Yue-Juan Xu +10 more
core +1 more source
Essential embryology for the Canadian pathologists’ assistant
Anatomical Sciences Education, EarlyView.Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 more
wiley +1 more source
Wnt Signaling in Neural Crest Ontogenesis and Oncogenesis. [PDF]
, 2019 Neural crest (NC) cells are a temporary population of multipotent stem cells that generate a diverse array of cell types, including craniofacial bone and cartilage, smooth muscle cells, melanocytes, and peripheral neurons and glia during embryonic ...
Hao, Hongyan +4 more
core +2 more sources
Influence of Tracheostomy Level on Surgical Management of Pediatric Airway Stenosis
The Laryngoscope, EarlyView.Tracheostomy location is a critical determinant of surgical complexity and outcomes in pediatric laryngotracheal stenosis. Misplacement may lead to longer tracheal resections, an increased need for stoma relocation, more complex reconstruction, and secondary stenosis. Strategic planning of tracheostomy position can improve surgical outcomes.
Alexandre Waldmeyer +2 more
wiley +1 more source
Progressive hypergonadotropic hypogonadism in an adolescent with 22q11.2 deletion syndrome
BMC Endocrine DisordersBackground DiGeorge syndrome is a common microdeletion disorder caused by deletion in the 22q11.2 region. It typically presents with immune dysfunction, parathyroid hypoplasia, and congenital heart defects. Testis-specific serine/threonine kinases (TSSKs)
Duygu Deligözoğlu +4 more
doaj +1 more source
Case Reports in Pediatrics, 2015 We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mild ...
Gianluigi Laccetta +5 more
doaj +1 more source
Journal of the Formosan Medical Association, 2015 DiGeorge syndrome is not really a rare disease. A microdeletion of chromosome 22q11.2 is found in most patients. Sharing the same genetic cause, a wide spectrum of clinical manifestations such as conotruncal anomaly face syndrome, Cayler cardiofacial ...
Chih-Hsuan Fu +3 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam +5 more
wiley +1 more source