Results 31 to 40 of about 99,876 (350)
Biomolecules, 2023 Pseudoachondroplasia (PSACH), a severe dwarfing condition associated with early-onset joint degeneration and lifelong joint pain, is caused by mutations in cartilage oligomeric matrix protein (COMP).
Jacqueline T. Hecht +7 more
doaj +1 more source
Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience [PDF]
Annals of Pediatric Endocrinology & MetabolismPurpose We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra. Methods We reviewed the medical records of 50 patients who
Su Jin Kim +4 more
doaj +1 more source
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. [PDF]
, 2015 Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic behavior and also development, differentiation, growth, and survival.
Helsten, Teresa +2 more
core +2 more sources
Гений oртопедии, 2021 Introduction Achondroplasia (ACP) is a common skeletal dysplasia. Vozoritide is the first drug that has an effect on the pathogenesis of impaired enchondral growth in achondroplasia.
Dmitry A. Popkov +2 more
doaj +1 more source
Cardiac interventions in patients with achondroplasia: a systematic review. [PDF]
, 2020 Patients with achondroplasia and other causes of dwarfism suffer from increased rates of cardiovascular disease relative to the remainder of the population.
Choi, Jae Hwan +6 more
core +1 more source
Reactive Attachment Disorder of Infancy or Early Childhood [PDF]
, 1994 Since its introduction into DSM-Ill, reactive attachment disorder has stood curiously apart from other diagnoses for two reasons: it remains the only diagnosis designed for infants, and it requires the presence of a specific etiology.
Richters, Dr. Margot Moser +1 more
core +1 more source
Plant Signaling & Behavior, 2022 Disruption of the Arabidopsis mitogen-activated protein kinase pathway, MEKK1–MKK1/MKK2–MPK4 (hereafter designated as MEKK1 pathway), leads to the activation of distinct NLRs (nucleotide-binding and leucine-rich repeat receptors), TNL (TIR-type NLR) SMN1,
Momoko Takagi +5 more
doaj +1 more source
Physiopathological Implications of 7TM Receptors [PDF]
, 2010 Seven-transmembrane (7TM) receptors are one of the most important proteins involved in perception of extracellular stimuli and regulation of variety of intracellular signaling pathways.
Cygankiewicz, Adam
core +1 more source
Heterogeneity of a dwarf phenotype in Dutch traditional chicken breeds revealed by genomic analyses
Evolutionary Applications, 2021 The growth of animals is a complex trait, in chicken resulting in a diverse variety of forms, caused by a heterogeneous genetic basis. Bantam chicken, known as an exquisite form of dwarfism, has been used for crossbreeding to create corresponding dwarf ...
Zhou Wu +7 more
doaj +1 more source
A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
core +3 more sources