Results 131 to 140 of about 4,846,243 (320)

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  

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

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

Functional genomics in Inborn errors of immunity

Immunological Reviews
Inborn errors of immunity (IEI) comprise a diverse spectrum of 485 disorders as recognized by the International Union of Immunological Societies Committee on Inborn Error of Immunity in 2022. While IEI are monogenic by definition, they illuminate various
Charlotte Hurabielle, Taylor N. LaFlam, Melissa Gearing, C. Ye   +3 more
semanticscholar   +1 more source

Cardiomyopathy and mitochondrial encephalomyopathy in a female child associated with a heterozygous X-linked AIFM1 variant

Molecular and Cellular Pediatrics
Background AIFM1 encodes the X-linked oxidoreductase ‘apoptosis-inducing factor 1, mitochondrial’ that mediates caspase-independent programmed cell death and is involved in redox metabolism. To date, cardiac involvement has been reported in four patients
Christoph Sandmann, Swathi Gudapati, Johannes A. Mayr, Rami Abou Jamra, Alexander Kovacevic, Steffen Syrbe   +5 more
doaj   +1 more source

Respuesta inmune por anticuerpos en niños de hasta cinco años con enfermedades genéticas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2020
Fundamento: la valoración inmunológica forma parte del tratamiento integral a los pacientes con enfermedades genéticas. Las deficiencias de anticuerpos representan las alteraciones inmunológicas más frecuentes.Objetivo: describir la respuesta de ...
Enelis Reyes-Reyes, Nora María Orive-Rodríguez, Lisset del Carmen Romero-Portelles, Maidelina Cardoso-Paredes   +3 more
doaj  

Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic 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.
Bruno, Giuliana, Caterino, Marianna, Ruoppolo, Margherita, Giuliana Bruno, Marianna Caterino, Zacchia, Miriam, Daniela Crisci, Michele Costanzo, Margherita Ruoppolo, Costanzo, Michele, Miriam Zacchia, Crisci, Daniela   +11 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

Single‐Nucleus Atlas of Spinal Sarcopenia Patients Reveals Disruption of Quiescent and Regenerative Satellite Cell Niches in Fatty‐Infiltrated Muscle

Advanced Science, EarlyView.
Mechanisms of Fatty Infiltration and Muscle Degeneration. Clinical metadata identified intramuscular fat accumulation as an independent driver of muscle mass decline. Single‐nucleus RNA sequencing of spinal sarcopenia muscle revealed adipogenic reprogramming of fibro‐adipogenic progenitors, satellite‐cell niche disruption, and elevated levels of the ...
Wenkai Wu, Renxian Wang, Dingding Wang, Quanzhong Ren, Ling Wang, Fangfang Duan, Guihe Yang, Ruixuan Yu, Yi Wang, Yingyu Zhang, Zetong Zang, Chuqi Li, Weijia Liu, Wenshuang Zhang, Yi Yuan, Zitong Cheng, Xiaoguang Cheng, Junbo Liang, Yajun Liu   +18 more
wiley   +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