Results 91 to 100 of about 618,834 (263)

Shprintzen-Goldberg syndrome

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
The Shprintzen-Goldberg syndrome is an extremely rare disorder of the connective tissue, characterized by Marfanoid bodily habitus, craniosynostosis with peculiar facies and skeletal alterations associated with intellectual disability.
Elayne Esther Santana Hernández
doaj  

Inactivation of AXL in Cardiac Fibroblasts Alleviates Right Ventricular Remodeling in Pulmonary Hypertension

Advanced Science, EarlyView.
Pulmonary hypertension (PH) is a progressive condition with high morbidity and mortality, largely owing to right ventricular (RV) failure resulting from maladaptive remodeling. Our study provides strong evidence in support of a critical, detrimental role for AXL as a previously unrecognized determinant driving RV fibrotic pathology in PH.
Li‐Wei Wu, Min Chen, Chen‐Yu Jiang, Dai‐Ji Jiang, Xu Zhang, Xiao‐He Xu, Yi‐Wei Liu, Bei Feng, Lin‐Cai Ye, Yang‐Yang He, Xu Huang, Yi‐Chi Zhang, Xing‐Liang Zhou, Yi Shen, Tian‐Yu Liu, Li‐Jun Fu, Yi Yan, Hao Zhang   +17 more
wiley   +1 more source

Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea [PDF]

Diabetes & Metabolism Journal
Maternally inherited diabetes and deafness (MIDD) is a rare mitochondrial disorder primarily resulting from m.3243A>G mutation. The clinical characteristics of MIDD exhibit significant heterogeneity.
Eun Hoo Rho, Sang Ik Baek, Heerah Lee, Moon-Woo Seong, Jong-Hee Chae, Kyong Soo Park, Soo Heon Kwak   +6 more
doaj   +1 more source

MSC Membrane‐Coated circPROSC‐siRNA Nanoparticles for Ameliorating Craniosynostosis by Inhibiting Premature Suture Ossification

Advanced Science, EarlyView.
CircPROSC promotes craniosynostosis by sponging miR‐6815‐5p, thereby activating WNT3A/β‐catenin signaling and enhancing RUNX2‐mediated osteogenesis. Targeted silencing of circPROSC with MSC membrane–coated siRNA nanoparticles (MM@Lipo/si‐circPROSC) delivered postnatally into cranial sutures attenuates premature suture closure in Twist1+/– mice ...
Zhenkun Weng, Xiu Chen, Jin Xu, Qing Yan, Jian Jiao, Qian Liu, Aihua Gu   +6 more
wiley   +1 more source

Clinical standards and interpretation of gene sequence variants in human Mendelian disorders

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
DOI: 10.3969/j.issn.1672-6731.2017.07 ...
Bei-sha TANG, Sheng ZENG, Kai LI
doaj  

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

Orphanet Journal of Rare Diseases, 2020
Background Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting ...
Patrícia Varela, Gianna Mastroianni Kirsztajn, Fabiana L. Motta, Renan P. Martin, Lauro T. Turaça, Henrique L. F. Ferrer, Caio P. Gomes, Priscila Nicolicht, Maryana Mara Marins, Juliana G. Pessoa, Marion C. Braga, Vânia D’Almeida, Ana Maria Martins, João B. Pesquero   +13 more
doaj   +1 more source

Allelic Variation in Maize Malate Dehydrogenase 7 Shapes Promoter Methylation and Banded Leaf and Sheath Blight Resistance

Advanced Science, EarlyView.
In this study maize chloroplastic malate dehydrogenase7 (ZmMDH7), is identified as a Rhizoctonia solani resistance gene in maize. ZmMDH7 is regulated by transcription factor ZmWRKY44 via pathogens challenge to elevate mitochondrial ROS and SA signaling pathway.
Luyang Wei, Junbin Chen, Chuang Liu, DanDan Liu, Meida Du, Shengfeng He, Wenyu Cheng, Vijai Bhadauria, You‐Liang Peng, Wangsheng Zhu   +9 more
wiley   +1 more source

Strategies and problems of genetic diagnosis for neurogenetic diseases

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Neurogenetic diseases are difficult to diagnose due to complicated phenotypes. Genetic testing is always the option for final diagnosis. With the progress and update of molecular diagnostic techniques, especially widely usage of next - generation ...
Xun-hua LI, Ding-bang CHEN, Chao WU
doaj  

Injectable and In Situ Hydration‐Reinforced Hybrid Bone Cements for Accelerated Bone Regeneration

Advanced Science, EarlyView.
To enable minimally invasive bone defect repair, an injectable and hydration‐reinforced bone cement (L‐PEGS/CPC) is designed through biomimetic reconstruction. The hydrophilic L‐PEGS organic phase provides abundant nucleation sites, synergizing with its porous architecture to accelerate CPC hydration, thereby endowing the composite with exceptional ...
Xing Chen, Yifan Ma, Lingfei Zhao, Lingbin Che, Dianwen Song, Zihan Wu, Changsheng Liu, Yuan Yuan   +7 more
wiley   +1 more source

Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases

Kidney Diseases, 2017
Background: Inherited metabolic disorders or inborn errors of metabolism are caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids.
M. Costanzo, M. Zacchia, Giuliana Bruno, D. Crisci, M. Caterino, M. Ruoppolo   +5 more
semanticscholar   +1 more source