Results 261 to 270 of about 408,305 (347)

Increasing Sufu gene dosage reveals its unorthodox role in promoting polydactyly and medulloblastoma tumorigenesis. [PDF]

JCI Insight
Han B, Wang Y, Yue S, Zhang YH, Kuang L, Gao BB, Wang Y, Zhang Z, Pu X, Wang XF, Hui CC, Yu TT, Liu C, Cheng SY.   +13 more
europepmc   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Gene dosage of independent dynein arm motor preassembly factors influences cilia assembly in Chlamydomonas reinhardtii. [PDF]

PLoS Genet
Penny GM, Dutcher SK.
europepmc   +1 more source

Allele dosage of PVY resistance genes in potato clones using molecular markers

, 2017
Caroline Marques Castro, Raquel Bartz Kneib, R. B. Kneib, Arione da Silva Pereira   +3 more
openalex   +1 more source

Additional file 5: of Determination of dosage compensation and comparison of gene expression in a triploid hybrid fish

, 2017
Li Ren, Chenchen Tang, Wuhui Li, Jialin Cui, Xingjun Tan, Yafeng Xiong, Jie Chen, Jun Wang, Jun Xiao, Yi Zhou, Jing Wang, Min Tao, Chun Zhang, Shaojun Liu   +13 more
openalex   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Increased gene dosage of RFWD2 causes autistic-like behaviors and aberrant synaptic formation and function in mice. [PDF]

Mol Psychiatry
Li YX, Tan ZN, Li XH, Ma B, Adu Nti F, Lv XQ, Tian ZJ, Yan R, Man HY, Ma XM.   +9 more
europepmc   +1 more source

GENERATION OF AUTHENTIC HUMAN NEOCORTICAL NEURONS FROM INDUCED PLURIPOTENT STEM CELLS TO INVESTIGATE 7Q11.23 GENE DOSAGE IMBALANCES

, 2018
Alice Maria Giani
openalex   +2 more sources