Results 151 to 160 of about 128,344 (306)

Ex Vivo LRRK2 Activation in Asian G2385R and R1628P Variant Carriers and Idiopathic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) kinase inhibition is a promising therapeutic strategy for Parkinson's disease (PD), but the functional impact of Asian‐prevalent LRRK2 p.G2385R and p.R1628P variants remains unclear. Robust patient stratification and target engagement markers are needed for global LRRK2‐targeted trials ...
Tzi Shin Toh, Lei Cheng Lit, Shen‐Yang Lim, Jia Wei Hor, Choey Yee Lew, Anis Nadhirah Khairul Anuar, Yi Wen Tay, Kirsten Black, Jia Lun Lim, Jannah Zulkefli, Kai Shi Lim, Hans Xing Ding, Shalini Padmanabhan, Azlina Ahmad‐Annuar, Eng King Tan, Dario R. Alessi, Esther Sammler, Ai Huey Tan   +17 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

TULP4, a novel E3 ligase gene, participates in neuronal migration as a candidate in schizophrenia

CNS Neuroscience &Therapeutics, EarlyView., 2023
Mutations identified from four SCZ pedigrees resulted in decreased TULP4 expression. Tulp4 knockdown caused delayed neuron migration in embryonic mice, and impaired cognition and prepulse inhibition in adult mice. These phenotypes may be related to TULP4 through its involvement in the formation of a novel E3 ubiquitin ligases.
Yan Bi, Decheng Ren, Fan Yuan, Zhou Zhang, Daizhan Zhou, Xin Yi, Lei Ji, Keyi Li, Fengping Yang, Xi Wu, Xingwang Li, Yifeng Xu, Yun Liu, Peng Wang, Changqun Cai, Chuanxin Liu, Qian Ma, Lin He, Yi Shi, Guang He   +19 more
wiley   +1 more source

Primary cilia

Journal of Oral and Maxillofacial Pathology, 2017
openaire   +3 more sources

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source

A high-resolution spatial map of cilia-associated proteins in the human fallopian tube. [PDF]

Nat Commun
Hikmet F, Digre A, Hansen JN, Schon SB, Lundberg E, Olovsson M, Uhlén M, Méar L, Lindskog C.   +8 more
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Melanocortin 3 Receptors Do Not Specifically Localize to Primary Cilia in Cultured Human and Rodent Neurons. [PDF]

Cell Biochem Funct
Vos N, Moro A, Hul WV, Kleinendorst L, Florijn RJ, la Fleur SE, Verhage M, van Haelst MM, Toonen RF.   +8 more
europepmc   +1 more source

Evidence‐based guideline for clinical practice in the diagnosis, treatment, management, and prevention of recurrent wheezing in infants and toddlers in China

Pediatric Investigation, EarlyView.
ABSTRACT Wheezing is a common respiratory symptom in infants and toddlers, and recurrent wheezing is a significant respiratory disorder affecting this age group. Given the multifactorial etiology of recurrent wheezing, clinical practice lacks standardized diagnostic and therapeutic protocols. Recent years have witnessed substantial progress in clinical
Committee of Pediatrics, China Medical Education Association, Cooperative Group of Asthma, the Subspecialty Group of Respiratory, the Society of Pediatrics, Chinese Medical Association, Pediatric Respiratory Work Committee, Society of Pulmonologists, Chinese Medical Doctor Association, Committee of Pediatrics, Chinese Research Hospital Association, Pediatric Professional Committee of the Chinese Non‐public Medical Institutions Association, Professional Committee of Children's Health and Pharmaceutical Research, China Association of Traditional Chinese Medicine, Children's Safe Medication Branch of China News of Drug Information Association, Pediatric Expert Committee of China Primary Health Care Foundation, China International Medical Foundation   +16 more
wiley   +1 more source