Results 271 to 280 of about 40,574 (330)

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant

Prenatal Diagnosis, EarlyView.
Abstract Joubert syndrome is a rare autosomal recessive ciliopathy defined by the “molar tooth” sign caused by cerebellar vermis hypoplasia and abnormal superior cerebellar peduncles. Over 40 genes are known to cause the disorder, including KIAA0586, which encodes the centrosomal protein TALPID3, essential for ciliogenesis and Hedgehog signaling ...
Tamara Casteleyn, Markus Vogt, Alexander Weichert, Béla Zimmer, Birgit Lala, Wolfgang Henrich, Josefine Theresia Königbauer   +6 more
wiley   +1 more source

Transport, cilia, and PKD: must we in (cyst) on interrelationships? Focus on “Increased Na⁺/H⁺ exchanger activity on the apical surface of a cilium-deficient cortical collecting duct principal cell model of polycystic kidney disease”

, 2012
Ellis D. Avner, Alicia A. McDonough, William E. Sweeney   +2 more
openalex   +2 more sources

Borg3 controls septin polymerization for primary cilia formation. [PDF]

iScience
Schampera JN, Lehmann F, Meléndez AV, Schwan C.   +3 more
europepmc   +1 more source

Recent Progress in Treating Airway Mucus Hypersecretion by Targeting the Epidermal Growth Factor Receptor Signaling Pathway

Pediatric Discovery, EarlyView.
ABSTRACT Asthma, chronic pulmonary obstructive disease (COPD), cystic fibrosis, and acute respiratory infections are severe respiratory conditions that significantly contribute to global morbidity and mortality. Airway mucus hypersecretion is an important common pathophysiological and clinical manifestation of these diseases and is closely associated ...
Yuanyuan Zhang, Fuping Yang, Chunyu Yan, Yu Deng, Enmei Liu   +4 more
wiley   +1 more source

Tulp3 quantitative alleles titrate requirements for viability, brain development, and kidney homeostasis but do not suppress Zfp423 mutations in mice. [PDF]

PLoS Genet
McCoy CA, Concepcion D, Mezody MG, Lara RZ, Deshpande O, Liang C, Long R, Hamilton BA.   +7 more
europepmc   +1 more source

Population Pharmacokinetic Model of Pegbing in Healthy Subjects and Chronic Hepatitis B Patients

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Pegbing (peginterferon alpha‐2b) is a polyethylene glycol‐modified interferon α‐2b injection that has demonstrated favorable efficacy and safety profiles in the treatment of chronic hepatitis B (CHB). This study aimed to develop a population pharmacokinetic (PopPK) model of Pegbing in both healthy subjects and CHB patients and to investigate ...
Weizhe Jian, Yalin Yin, Rong Chen, Pingyao Luo, Tianyu Wang, Jianbo Gu, Zhengfang Du, Lei Cai, Tianyu Bao, Junsheng Xue, Ruoyi He, Tianyan Zhou   +11 more
wiley   +1 more source

GPR161 mechanosensitivity at the primary cilium drives neuronal saltatory migration. [PDF]

Sci Adv
Paillard T, Allam A, Doulazmi M, Hautefeuille M, Fouquet C, Sarde L, Stoufflet J, Messaoudi S, Spassky N, Nédélec S, Dusart I, Trembleau A, Isabelle Caillé.   +12 more
europepmc   +1 more source

Electroactuated liquid crystal polymers

Responsive Materials, EarlyView.
Electroactuated liquid crystal polymers exhibit corresponding deformations under electrical stimulation, and electroactive deformations can be controlled by adjusting electrical parameters. This review introduces classification, mechanisms, characteristics, and applications, and looks forward to their potential development directions.
Ruitong Song, Jiu‐an Lv
wiley   +1 more source

TurboID Labeling and Analysis of Proteins in the Primary Cilium. [PDF]

Bio Protoc
Liu X, Ge X.
europepmc   +1 more source