Results 121 to 130 of about 63,582 (298)

Inborn errors of metabolism

, 2001
Inborn errors of metabolism (IEM) are a group of disorders that causes abnormal function of biochemical pathways. Archibald Garrod des-cribed the first inborn error of metabolism in 1893. He described alkaptonuria in a patient whose urine turned black on
Tuan Norhafizah binti Tuan Zakaria
core  

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

, 2019
Pyrimidine nucleotides are essential for a vast number of cellular processes and dysregulation of pyrimidine metabolism has been associated with a variety of clinical abnormalities.
Wassermann, Wyeth W, Bidon-Chanal, Axel, Kulik, Wim, Pérez-Torras, Sandra, Viel-Oliva, Albert, Pastor-Anglada, Marçal, Ross, Colin J, Meinsma, Rutger, Drögemöller, Britt, Tarailo-Graovac, Maja, Meijer, Judith, Mata-Ventosa, Aida, van Cruchten, Arno G, van Karnebeek, Clara D M, van Kuilenburg, André B P   +14 more
core   +1 more source

Increased Disarray of Extracellular Matrix Collagen‐I Fiber Network and Compromised Biomechanics in Aortae From Marfan‐Syndrome Mice Assessed Through Combined Opto‐Biomechatronics

Advanced Science, EarlyView.
Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Dominik Schneidereit, Anika Nagel, Vanessa I. T. Zwaans, Laureen Schurr, Jonas Ahr, Michael Haug, Anna Piluso, Alexandra Sporkova, Matthias Karck, Andreas H. Wagner, Oliver Friedrich   +10 more
wiley   +1 more source

A Novel Nomogram for Predicting Gonadotropin-Releasing Hormone Analogue Treatment Outcome in Girls with Idiopathic Central Precocious Puberty

International Journal of Women's Health
Shiyi Xu,1 Limei Guan,1,2 Qiuting Lin,1 Hui Liu1,2 1College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350000, People’s Republic of China; 2Department of Endocrinology and Inborn Metabolic ...
Xu S, Guan L, Lin Q, Liu H
doaj  

TH/TRs–COL11A2 Axis Mediates Loss of a Differentiated Astrocyte State in Hypogyrified Brains

Advanced Science, EarlyView.
Using a gyrencephalic congenital hypothyroidism pig model, this study reveals cerebral atrophy and cortical hypogyrification. Single‐cell sequencing identifies astrocytes as major TH‐responsive cells, with the COL11A2‐enriched Astro‐2 state nearly absent.
Ying Zhang, Xiao Wang, Hongyan Ma, Pengcheng Lyu, Shuangjie Tian, Ruojun Zong, Jiani Chen, Gang Ren, Yongjiang Yang, Zichen Yang, Guosong Qin, Naishi Li, Yanfang Wang, Jianwei Jiao, Jianguo Zhao   +14 more
wiley   +1 more source

Progress toward improved therapies for inborn errors of metabolism

, 2015
Because of their prevalence, severity and lack of effective treatments, inborn errors of metabolism need novel and more effective therapeutic approaches.
GINOCCHIO, virginia maria, BRUNETTI PIERRI, NICOLA   +1 more
core   +1 more source

Antigen‐Detected NMR for Minimal Epitope Engineering and Structure‐Guided Selection of a NaV1.7‐Selective Nanobody

Advanced Science, EarlyView.
A minimal extracellular epitope from voltage‐gated sodium channel NaV1.7 was engineered into an isotope‐labelled antigen for antigen‐detected nuclear magnetic resonance (NMR). Together with AlphaFold2 (AF2), this enabled structure‐guided selection of R4C8, a human NaV1.7‐selective nanobody that labels fixed NaV1.7‐expressing cells and produces staining
Junyu Liu, Wanlin Chen, Ben Cristofori‐Armstrong, Theo Crawford, Kai‐En Chen, Peng Xie, Rainbow Wing Bo Chan, Yifei Zhu, Mimi Golder, Anneka Pereira Schmidt, Jennifer D. Naughton, Nicholas D. Condon, Åsa Andersson, Farhad Dehkhoda, Kirsten L. McMahon, Tabea Klasfauseweh, Ashvriya Thapa, Hue Tran, Poanna Tran, Sina Jami, Lotten Ragnarsson, Sebastian G. B. Furness, Jennifer R. Deuis, Brett M. Collins, Wai‐Hong Tham, Indira Prasadam, Irina Vetter, Mehdi Mobli   +27 more
wiley   +1 more source

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay–Sachs Disease

Pharmaceutics
Background/Objectives: Tay–Sachs disease (TSD) is a neurodegenerative disorder caused by a deficiency in β-hexosaminidase A (HexA), which accumulates GM2 gangliosides, primarily in neurons.
Jacky M. Guerrero-Vargas, Diego A. Suarez-Garcia, Andrés F. Leal, Ivonne L. Diaz-Ariza, León D. Pérez-Pérez, Angela J. Espejo-Mojica, Carlos J. Alméciga-Díaz   +6 more
doaj   +1 more source

Proteogenomic Profiling of Idiopathic Pulmonary Arterial Hypertension Identifies Sex‐Differential Proteins and Candidate Therapeutic Targets

Advanced Science, EarlyView.
An integrated proteogenomic analysis of 44,137 predominantly European‐ancestry UK Biobank participants aged 40–69 years identifies 12 robust proteins associated with idiopathic pulmonary arterial hypertension. These proteins define a high‐mortality molecular endotype, support early detection and mortality prediction, reveal sex‐differential proteomic ...
Xinjie Lin, Yangchang Zhang, Yang Pu, Duanke Liu, Tao Lei, Kai Ma, Qiyu He, Zheng Dou, Yuze Liu, Dengyuan Liu, Yinge He, Yanshang Wang, Xiaojiao Zheng, Yanbing Ma, Jianrong Zhou, Weiding Zhai, Binbin Su, Li Chen, Shoujun Li   +18 more
wiley   +1 more source

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

Advanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen, Zhiquan Liu, Wenmin Wang, Qing Wang, Tia J. Kowal, Fan Zhang, Grzegorz Walkiewicz, Faruk Hossen, Herbert M. Lachman, Jinqiong Zhou, Yiting Wang, Yang Sun   +11 more
wiley   +1 more source