Results 31 to 40 of about 47,631 (258)

Genetic Editing with CRISPR Cas9: recent Biomedical and Biotechnological Applications

Universitas Scientiarum
The use of a novel and powerful technology that allows for the precise editing of the genetic material of various organisms is becoming widespread. This technology derives from bacterial and archaeal defense machinery and is called CRISPR Cas9.
Fabián Andrés Garzón Posse, Angie Kathleen Pinilla Peña, Cesar Augusto Rivas Velásquez, María Camila Murillo Virgüez, Jorge Alberto Gutiérrez Méndez   +4 more
doaj   +1 more source

Association of Clinical Phenotypes in Haploinsufficiency A20 (HA20) With Disrupted Domains of A20

Frontiers in Immunology, 2020
Background: Haploinsufficiency A20 (HA20) is a newly described monogenic disease characterized by a wide spectrum of manifestations and caused by heterozygous mutations in TNFAIP3 which encodes A20 protein. TNFAIP3 mutation leads to disruption of the A20
Yu Chen, Zhenghao Ye, Liping Chen, Tingting Qin, Ursula Seidler, De'an Tian, Fang Xiao   +6 more
doaj   +1 more source

Whole-exome sequencing of a multicenter cohort identifies genetic changes associated with clinical phenotypes in pediatric nephrotic syndrome

Genes and Diseases, 2022
Understanding the association between the genetic and clinical phenotypes in children with nephrotic syndrome (NS) of different etiologies is critical for early clinical guidance.
Jia Jiao, Li Wang, Fenfen Ni, Mo Wang, Shipin Feng, Xiaojie Gao, Han Chan, Xueying Yang, Hao Lee, Huan Chi, Xuelan Chen, Daoqi Wu, Gaofu Zhang, Baohui Yang, Anshuo Wang, Qin Yang, Junli Wan, Sijie Yu, Xiaoqin Li, Mei Wang, Xiaofeng Chen, Xianying Mai, Xiongzhong Ruan, Haiping Yang, Qiu Li   +24 more
doaj   +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

Pharmacologic Management of Monogenic and Very Early Onset Inflammatory Bowel Diseases

Pharmaceutics, 2023
Inflammatory bowel disease (IBD) is treated with a variety of immunomodulating and immunosuppressive therapies; however, for the majority of cases, these therapies are not targeted for specific disease phenotypes.
Anne E. Levine, Dominique Mark, Laila Smith, Hengqi B. Zheng, David L. Suskind   +4 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Clinical approach to monogenic Parkinson’s disease

Annals of Movement Disorders
Monogenic Parkinson’s disease refers to the Parkinson’s disease phenotype caused by mutations in genes that generally follow a mendelian pattern of inheritance. Though this is a rare entity in comparison to idiopathic Parkinson’s disease, they provide an
Manu S. Girija, Asha Kishore
doaj   +1 more source

A Machine Learning Approach to Identifying Causal Monogenic Variants in Inflammatory Bowel Disease

Gastro Hep Advances, 2022
Background and Aims: Diagnosis of monogenic disease is increasingly important for patient care and personalizing therapy. However, the current process is nonstandardized, expensive, and time consuming.
Daniel J. Mulder, Sam Khalouei, Michael Li, Neil Warner, Claudia Gonzaga-Jauregui, Eric I. Benchimol, Peter C. Church, Thomas D. Walters, Arun K. Ramani, Anne M. Griffiths, Amanda Ricciuto, Aleixo M. Muise   +11 more
doaj   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper, Annaliis Lehto, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Vogt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Anja Schneider, Stefan Teipel, Johannes Prudlo, Andreas Hermann   +25 more
wiley   +1 more source