Results 141 to 150 of about 52,839 (293)

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia

Background and ObjectivesHypotonia is a relatively common finding among infants in the neonatal intensive care unit (NICU). Consideration of genetic testing is recommended early in the care of infants with unexplained hypotonia.
Costain, Gregory, Muntoni, Francesco, Morton, Sarah U., Beggs, Alan H., French, Courtney E., Christodoulou, John, D'Gama, Alissa M., Rowitch, David, Stark, Zornitza, Agrawal, Pankaj B., Cohn, Ronald, Szuto, Anna, Darras, Basil T., Dowling, James J., Wojcik, Monica H., Lunke, Sebastian, Wakeling, Emma, Raymond, Lucy   +17 more
core   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Gross Motor Outcomes After Dynamic Weight-Bearing in 2 Children With Trunk Hypotonia: A Case Series [PDF]

, 2017
NTRODUCTION: Children with trunk hypotonia may have limited ability to maintain an upright weight-bearing position, resulting in decreased postural control and a delay in achieving gross motor milestones.
Manella, Kathleen, Flores, Megan, Ardolino, Elizabeth   +2 more
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Developmental morphology of claspers and clasper‐glands during maturation in Potamotrygon wallacei (Chondrichthyes: Potamotrygoninae)

The Anatomical Record, EarlyView.
Abstract The claspers are the copulatory organs in male elasmobranchs, responsible for directing the semen into the female cloaca (C). However, the microscopic morphology of the claspers remains poorly understood. This study describes the morphology of the claspers and clasper glands (CGs) of cururu stingray (Potamotrygon wallacei) at different ...
Matheus Samuel Cunha Braga, Grazyelle Sebrenski da Silva, Maria Inês Braga de Oliveira, Jaydione Luiz Marcon, Ruben Dario Morales Gamba   +4 more
wiley   +1 more source

Early muscle hypotonia as a potential marker for autism spectrum disorder: a systematic review

Background The diagnosis of ASD has increased globally owing to the expansion of diagnostic criteria, increased awareness, and improvement in symptom identification.
Wang, Jinying, Ma, Yuhan, Lv, Zhihai, Zhang, Ting, Cao, Zhenkun   +4 more
core   +1 more source

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

Homologous membrane wrapped ZIF‐8 nanoparticles accelerate differentiation of neural stem cell for spinal cord injury therapy

BMEMat, EarlyView.
Homologous membrane wrapped ZIF‐8 nanoparticles were proposed to improve biocompatibility and targeting ability to neural stem cells (NSCs). ZIF‐8‐SCM NPs exhibit pH responsiveness, thereby generating an intracellular Zn2+ storm to accelerate neural differentiation through calcium and MAPK signaling pathways. Moreover, they promote function recovery in
Jie Wang, Lusen Shi, Xinhui Liu, Zhong Zhuang, Zhichao Feng, Chunhui Sun, Jingang Wang, Nik Ahmad Nizam Nik Malek, Wan Hairul Anuar Kamaruddin, Shuping Wang, Hengxing Zhou, Na Ren   +11 more
wiley   +1 more source