Results 61 to 70 of about 11,428 (200)
Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple +30 more
wiley +1 more source
Setmelanotide in Bardet‐Biedl Syndrome: A Case Report
ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith +2 more
wiley +1 more source
Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation. [PDF]
Primary cilia are cellular appendages important for signal transduction and sensing the environment. Bardet-Biedl syndrome proteins form a complex that is important for several cytoskeleton-related processes such as ciliogenesis, cell migration and ...
Beales, PL +6 more
core +4 more sources
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome
The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency.
Luz Yaqueline Ladino +4 more
doaj +1 more source
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. [PDF]
PurposeThe Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD).
Akram, Javed +24 more
core +1 more source
Cilia in Nervous System Development, Function, and Disease
Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley +1 more source
ABSTRACT Background Although semaglutide 2.4 mg has demonstrated significant weight loss efficacy in clinical trials, real‐world data, particularly with regard to clinically complex and underrepresented populations, remain limited. Objectives The study aims to assess the real‐world effectiveness and patient‐reported outcomes associated with the use of ...
Pierre Bel Lassen +20 more
wiley +1 more source
A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico
Gabriel A Guardiola,1 Fabiola Ramos,2 Natalio J Izquierdo,3 Armando L Oliver2 1Department of Medicine, Universidad Central del Caribe School of Medicine, Bayamon, PR, USA; 2Department of Ophthalmology, University of Puerto Rico School of Medicine ...
Guardiola GA +3 more
doaj
Penalized regression is an attractive framework for variable selection problems. Often, variables possess a grouping structure, and the relevant selection problem is that of selecting groups, not individual variables. The group lasso has been proposed as
A. Chiang +28 more
core +1 more source

