Results 111 to 120 of about 444,809 (263)

The Landscape of Long Non‐Coding RNAs Provides Insights Into the Domestication and Improvement of Pear Fruit

Advanced Science, EarlyView.
This study reveals that long non‐coding RNAs represent important regulatory components underlying pear domestication and improvement. Integrative multi‐omics analyses identify selected lncRNAs associated with fruit traits, while functional validation uncovers a lignin‐related lncRNA, lncRNA‐pys, that promotes lignin accumulation.
Bobo Song, Peilin Han, Jiaming Li, Xiaolong Li, Xiang Zhang, Jing Fan, Dongliang Liu, Jianfa Cai, Lingchao Zhang, Jun Wu   +9 more
wiley   +1 more source

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrum

, 2017
We previously reported exome sequencing in a short-rib thoracic dystrophy (SRTD) cohort, in whom recessive mutations were identified in SRTD-associated genes in 10 of 11 cases.
Leo, Paul J., Duncan, Emma L., Mcinerney-Leo, Aideen M., Anderson, Lisa K., Paul J. Leo, Wicking, Carol, Carol Wicking, Mhairi S. Marshall, Matthew A. Brown, Emma L. Duncan, Zankl, Andreas, Wheeler, Lawrie, Aideen M. McInerney-Leo, Brown, Matthew A., Lawrie Wheeler, Lisa K. Anderson, Andreas Zankl, Marshall, Mhairi S.   +17 more
core   +1 more source

BOULE is Essential for the Dynamic Disassembly of Heat Shock Granules in Male Germ Cells

Advanced Science, EarlyView.
BOULE orchestrates stress granule disassembly in germ cells via a two‐pronged mechanism: it promotes G3BP1 ubiquitination by upregulating TRIM27, generating a signal for VCP/FAF2 recruitment, and it maintains G3BP1 and FAF2 protein levels. BOULE deficiency disrupts disassembly complex formation, leading to impaired heat shock granule clearance ...
Xin Li, Nana Zhang, Zexin Bian, Baobao Geng, Liyun Cao, Peipei Liu, Zengming Li, Yan Zhao, Jun Tan   +8 more
wiley   +1 more source

A Sole Case of the FGF23 Gene Mutation c.202A>G (p.Thr68Ala) Associated with Multiple Severe Vascular Aneurysms and a Hyperphosphatemic Variant of Tumoral Calcinosis—A Case Report

Life
Tumoral calcinosis is an extremely rare genetic disease caused by mutations in three genes, GALNT3, FGF23, and KL, which disrupt phosphorus metabolism. The hallmark of this condition is the formation of tumors in the soft tissues around the joints. Other
Nevena Georgieva Ivanova
doaj   +1 more source

USP30‐Mediated Deubiquitination of PEX5 Suppresses Pexophagy to Drive Tubular Injury in Diabetic Kidney Disease

Advanced Science, EarlyView.
USP30 accumulation in diabetic renal tubular epithelial cells deubiquitinates PEX5, suppresses pexophagy, and drives dysfunctional peroxisome accumulation and tubular injury. USP30 depletion restores PEX5 ubiquitination and pexophagy, improves peroxisomal function, and alleviates tubular damage, highlighting USP30 as a therapeutic target in diabetic ...
Jia Li, Chaoyang Hua, Guangpu Li, Furong Zhai, Jingjing Ren, Shaokang Pan, Qi Feng, Jianguo Wen, Dongwei Liu, Zhangsuo Liu, Jiayu Duan   +10 more
wiley   +1 more source

Homozygous desmocollin-2 mutations and arrhythmogenic cardiomyopathy

, 2015
Dominant mutations in desmocollin-2 (DSC2) gene cause arrhythmogenic cardiomyopathy (ACM), a progressive heart muscle disease characterized by ventricular tachyarrhythmias, heart failure, and risk of juvenile sudden death.
OCCHI, GIANLUCA, PILICHOU, KALLIOPI, MOSTACCIUOLO, MARIA LUISA, Rigato, Ilaria, THIENE, GAETANO, RAMPAZZO, ALESSANDRA, Lorenzon, Alessandra, Cason, Marco, BASSO, CRISTINA, CORRADO, DOMENICO, De Bortoli, Marzia, Carturan, Elisa, DALIENTO, LUCIANO, Mazzotti, Elisa, BAUCE, BARBARA, VAZZA, GIOVANNI, Poloni, Giulia, Lazzarini, Elisabetta, Calore, Martina   +18 more
core   +1 more source

Asymmetric Evolution of Antennal Cell Types Underlies a Derived Ammonia‐Sensing Logic for Ecological Adaptation in Bactrocera dorsalis

Advanced Science, EarlyView.
Comparative antennal single‐nucleus transcriptomics reveals cell‐type‐dependent transcriptomic divergence in Bactrocera dorsalis, with similar structural cells but divergent sensory neurons. This neuronal diversification is associated with a distinct ammonia‐sensing pathway, linking female attraction to bird‐dropping‐associated cues with nutritional ...
Wei Liu, Shuai Zhang, Jie Zhang, Zhen Tian, Yuanbo Xue, Ling Yang, Jun Xu, Guirong Wang   +7 more
wiley   +1 more source

Homozygous α-Spectrin (SPTA1) Variant Causing Persistent Hereditary Pyropoikilocytosis in a Newborn: A Case Report and Literature Review

Jamal Sayed,1 Alanoud Sulaiman Alabdulhadi,2 Waheed Abdullah Alzahrani,1 Faisal Joueidi,2 Ghaida Ali Alzahrani,3 Ahmed Gamal Sayed,2 Gamal T Ebid1 1Department of Pediatrics, Security Forces Hospital Makkah, (SFHM), Makkah, Saudi Arabia; 2College of ...
Alzahrani WA, Alzahrani GA, Sayed J, Sayed AG, Ebid GT, Joueidi F, Alabdulhadi AS   +6 more
core  

TAB2 Causes Neuronal Damage by Aggravating Microglia‐Mediated Neuroinflammation in Parkinson's Disease

Advanced Science, EarlyView.
In microglia, STAT3 upregulates TAB2, which promotes NF‐κB activation through its NZF domain‐mediated recognition of K63‐linked ubiquitin chains, leading to inflammatory cytokine release and subsequent neuronal injury. Lumacaftor suppresses TAB2 expression and directly binds the TAB2‐NZF domain to interrupt K63 ubiquitin recognition, thereby blocking ...
Yanhao Zhao, Zimeng Huang, Jianing Gao, Aolan Li, Huizhi Wang, Yingchuan Chen, Guanyu Zhu, Xin Zhang, Yin Jiang, Moxuan Zhang, Fangang Meng, Jianguo Zhang, Tingting Du   +12 more
wiley   +1 more source

I Carry the R202Q Variant Only, Can I Have the Classical Clinical Features of Familial Mediterranean Fever?

Forbes Tıp Dergisi
Objective: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by self-limited fever and polyserositis. The disease is associated with mutations in the Mediterranean fever (MEFV) gene, of which more than 700 variants
Melda TAŞ, Şerife Gül KARADAĞ, Nuray AKTAY AYAZ   +2 more
doaj   +1 more source