Results 101 to 110 of about 444,809 (263)

Clinical Benefits Associated With Evinacumab in Pediatric Patients With Homozygous Familial Hypercholesterolemia

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Homozygous familial hypercholesterolemia (HoFH), characterized by extremely elevated low‐density lipoprotein cholesterol (LDL‐C) due to severely impaired LDL‐C clearance from circulation, remains challenging to treat.
M. D. Reijman, Charlotte Nigmann, D. M. Kusters, R. N. Planken, Christian Loewe, Victor A. Verpalen, G. K. Hovingh, Manuela Neyer, Sophie Draxler‐Dworzak, Katharina Mair, Klaus Arbeiter, Thomas Mueller‐Sacherer, Jaap W. Groothoff, Barbara A. Hutten, Susanne Greber‐Platzer, Albert Wiegman   +15 more
doaj   +1 more source

Homozygous familial hypercholesterolemia

Indian Journal of Endocrinology and Metabolism, 2012
Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile ...
Ravi Kumar Parihar, Mohd. Razaq, Ghanshyam Saini   +2 more
doaj   +1 more source

AI Designed Conformation Locking Peptides Target STING to Restore Diabetic Wound Healing

Advanced Science, EarlyView.
A generative AI pipeline identifies SCP‐1, a conformation‐locking peptide that stabilizes inactive STING. Incorporated into a dual‐responsive hydrogel for localized, MMP‐9‐triggered release, SCP‐1 suppresses inflammation, promotes reparative macrophage polarization, and accelerates diabetic wound healing.
Xinyu Li, Haojie Fu, Zhe Wang, Xuanzhou Chen, Ruhong Zhang, Xudong Wang, Louis D. Zhang, Xiang Li, Datao Li   +8 more
wiley   +1 more source

Excision101 homozygous larvae have impaired UPR activation.

, 2014
(A) Picture of 3-day old Excision101 homozygous larva and heterozygous Excision101/CyO-GFP sibling control. Excision101 homozygous larva arrest development during first instar stage.
Dina S. Coelho (618111), Catarina J. Gaspar (618112), Pedro M. Domingos (618113)   +2 more
core   +1 more source

A Personalized Haplotype‐Resolved Near‐Gapless Genome Framework for Somatic Variant Discovery in Hepatocellular Carcinoma

Advanced Science, EarlyView.
A patient‐specific, haplotype‐resolved genome framework improves detection and interpretation of somatic variants in hepatocellular carcinoma. Using multi‐platform sequencing, the personalized assembly resolves complex regions including centromeres and MHC/HLA loci, enhances structural variant discovery, and links regulatory alterations to allele ...
Jiazheng Lin, Yao Xiao, Shuangzi Luo, Yifan Li, Wenfei Zhang, Xiaoyu Zhang, Xinyi Wang, Di Wu, Jieru Hong, Yongkun Luan, Xun Huang, Yixiu Wang, Ningbo Wu, Xiaoxiao Hu, Fei Zhao, Wei Li, Xiao Luo, Bi Shi   +17 more
wiley   +1 more source

HLA D typing with homozygous lymphoblastoid cell lines.

, 1977
Lymphoblastoid cell lines (LCL) were established from peripheral blood lymphocytes (PBL) of 2 HLA-DW 3 homozygous siblings. HLA-D typing was performed with the homozygous LCL and PBL in a group of 51 unrelated individuals selected according to their HLA ...
Netzel, B., Lenhard, V., Scholz, S.G., Bornkamm, G.W., Grosse-Wilde, H.   +4 more
core   +1 more source

Maternal Exercise Rescues Embryonic Osteogenesis Impaired due to POLG Mutation Through a Potential Apelin‐ATF4 Axis

Advanced Science, EarlyView.
Maternal exercise (ME) increases apelin abundance across maternal and fetal tissues and is associated with improved fetal osteogenesis under POLG mutation‐induced mitochondrial dysfunction. Apelin‐APJ signaling is linked to enhanced mitochondrial function, Akt phosphorylation, and ATF4‐RUNX2 association, supporting coordinated fetal bone remodeling ...
Song Ah Chae, Ryan C. Riddle, Zhihua Jiang, Chaeyoung Shin, Min Du, Jun Seok Son   +5 more
wiley   +1 more source

OTUD6A‐Mediated Deubiquitination of PRDX1 Protects Against Oral Ulcer by Restoring Mitochondrial Function

Advanced Science, EarlyView.
In human oral keratinocytes, OTUD6A promoted cell migration by deubiquitinating and stabilizing PRDX1. Conversely, OTUD6A deficiency reduced PRDX1 stability, triggering mitochondrial dysfunction and aggravating OU progression. ABSTRACT Oral ulcers (OU), as the most highly prevalent and recurrent oral mucosal lesion, have an unclear pathogenesis that ...
Xiaoyu Sun, Ruiwei Jia, Xingbei Pan, Rui Huang, Jiahong Chen, Ziyi Yao, Lei Yin, Jun Ma, Hongjieliang Wang, Xinyu Huang, Yilin Ma, Yifan Ping, Yuanyuan Chen, Huining Wang, Shengbin Huang, Guang Liang   +15 more
wiley   +1 more source

The effectiveness of liver transplantation in reducing lipid levels in Saudi children with homozygous familial hypercholesterolemia

Frontiers in Cardiovascular Medicine
IntroductionThe lipid profiles of patients aged <15 years who have been diagnosed with homozygous familial hypercholesterolemia (HoFH) at King Faisal Specialist Hospital & Research Center (Riyadh) were examined.MethodsThe total cholesterol and low-
Abdullah Al-Ashwal, Salman Al-Mansour, Mohammed Al-Shagrani, Talal Al-Gofi, Dieter Broering, Raghad Alhuthil   +5 more
doaj   +1 more source

Childhood hypophosphatasia with homozygous mutation of ALPL

, 2014
To describe an unusual phenotype of a case with rare homozygous ALPL gene mutation that results in mild form of hypophosphatasia. Case presentation, description of biochemical profiles, genetic testing and a brief review of literature are presented. A 13-
Ganapathy, Shankar Srinivas, Berkovitz, Gary, Haidet, Jaime, Ukarapong, Supamit   +3 more
core   +1 more source