Results 81 to 90 of about 618,834 (263)

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes

Medicina, 2019
The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin.
Laura Cristina Gironi, Francesca Zottarelli, Gianfranco Savoldi, Lucia Dora Notarangelo, Maria Eleonora Basso, Ivana Ferrero, Fabio Timeus, Franca Fagioli, Luigi Maiuri, Enrico Colombo, Paola Savoia   +10 more
doaj   +1 more source

A Twist in the Diagnosis: Chronic Arthropathy Without Inflammation

Arthritis Care &Research, EarlyView.
María Á. Puche‐Larrubia, Inmaculada C. Aranda‐Valera, Alejandro Escudero‐Contreras, Rosa Roldán‐Molina   +3 more
wiley   +1 more source

Metformin Restores Mitochondrial Function and Neurogenesis in POLG Patient‐Derived Brain Organoids

Advanced Science, EarlyView.
Patient‐derived POLG‐mutant cortical organoids reveal neuronal subtype‐specific mitochondrial and synaptic defects, with dopaminergic neurons most affected. Metformin treatment restores neuronal identity, mitochondrial function, and excitability, increased mtDNA maintenance, and reprogrammed metabolism via TCA and redox pathways.
Zhuoyuan Zhang, Tsering Yangzom, Ning Lu, Shenglong Deng, Xianglu Xiao, Guang Yang, Kristina Xiao Liang   +6 more
wiley   +1 more source

Mettl3‐Mediated m6A Modification Represents a Novel Therapeutic Target for FSGS

Advanced Science, EarlyView.
This study explores the roles of Mettl3‐induced N6‐methyladenosine (m6A) modifications in Focal segmental glomerulosclerosis (FSGS). The findings reveal that inhibition of Mettl3 results in podocyte injury by modulating the TJP1CDC42 pathway. Moreover, Administration of N6‐methyladenosine attenuates the FSGS phenotype in WT mice induced by Adriamycin ...
Fubin Zhu, Hongzhi Li, Xiang Li, Chunxiu Du, Ting Wang, Xuling Zhou, Xiaobei Xie, Yunxia Shao, Yingzhi Huang, Yanling Hu, Xinxin Guo, Bin Zhu, Shanshan Yu, Xiaoyan Zhang, Binghai Zhao   +14 more
wiley   +1 more source

Single‐Nucleus RNA Sequencing Reveals Mid‐Gestational Neurodevelopment Features in the Superior Temporal Plane from Fetuses with Nonsyndromic Cleft Lip and Palate

Advanced Science, EarlyView.
Single‐nucleus RNA sequencing of mid‐gestation brains from fetuses with nonsyndromic cleft lip and palate reveals major disruptions in cell composition, cell‐to‐cell signaling, and gene regulation. The transcription factor MEF2C is identified as a central regulator of these changes and shows that lowering MEF2C impairs synapse formation, linking cleft ...
Liu‐Lin Xiong, Xin‐Wei Huang, Qiu‐Xia Xiao, Ying‐Gang Zheng, Hao‐Yue Qin, Chang‐Le Fang, Li Chen, Ruo‐Lan Du, Qiu‐Lin Wang, Li‐Ren Huangfu, Ye‐Qing Fei, Yang‐Yang Zhao, Chen‐Yang Zhai, Ze‐Mian Chen, Shi‐Kun Yuan, Yu‐Ji Zhou, Xing‐Man He, Ting‐Ting Zhi, Xiao‐He Tian, Ting‐Hua Wang   +19 more
wiley   +1 more source

Griscelli syndrome type 2: Rare 3 cases from Iraq

Iraqi Journal of Hematology
Griscelli syndrome (GS) is multisystem disorder of three subtypes, hereditary autosomal recessive diseases characterized by inborn silvery gray hair, partial skin albinism & immune deficiency. It was first reported by Griscelli et al. in 1978.
Mouroge Hashim AL Ani, Farah Samer Yahya
doaj   +1 more source

Quantifying prior probabilities for disease-causing variants reveals the top genetic contributors in inborn errors of immunity

Background: Accurate interpretation of genetic variants requires a quantitative estimate of how likely a variant is to contribute to disease, accounting for both observed and unobserved causal alleles across different inheritance modes. Methods: We developed a statistical framework that computes genome-wide prior probabilities for variant ...
Simon Boutry, Ali Saadat, Maarja Soomann, Johannes Trueck, D. Sean Froese, Jacques Fellay, Sinisa Savic, Luregn J. Schlapbach, Dylan Lawless   +8 more
openaire   +1 more source

Hyperandrogenemia Induces Trophoblast Ferroptosis and Early Pregnancy Loss in Patients With PCOS via CMA‐Dependent FTH1 Degradation

Advanced Science, EarlyView.
In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou, Weijie Yang, Na Liu, Qing Liu, Jiamin Jin, Chenqiong Zhao, Xiaoying Jin, Miao Gui, Haiyan Zhu, Songying Zhang, Yinli Zhang   +10 more
wiley   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Journal of Pediatric Research, 2018
Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Adenylosuccinate Synthase 1 Deficiency Improves Energy Metabolism by Promoting Adipose Tissue Re‐esterification via Glycerol Kinase Upregulation

Advanced Science, EarlyView.
Working model of Adss1‐mediated regulation of energy metabolism in adipose tissue. In beige adipocytes, Adss1 interacts with HDAC3 in the cytoplasm, and its loss reduces nuclear HDAC3 while increasing cytosolic fractions. This redistribution suppresses HDAC activity and enhances H3K27 acetylation at the Gk promoter, leading to transcriptional ...
Jingjing Sun, Miriayi Alimujiang, Wenfei Li, Shuqin Chen, Yingying Su, Tingting Hu, Xuhong Lu, Yafen Ye, Ningning Bai, Fan Hu, Xiaoya Li, Rongrong Xu, Jun Xu, Jiarui Zhao, Yan Lu, Xiaojing Ma, Ying Yang   +16 more
wiley   +1 more source