Results 111 to 120 of about 132,731 (277)

A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).

PLoS ONE, 2013
Imerslund-Gräsbeck syndrome (IGS) or selective cobalamin malabsorption has been described in humans and dogs. IGS occurs in Border Collies and is inherited as a monogenic autosomal recessive trait in this breed.
Marta Owczarek-Lipska, Vidhya Jagannathan, Cord Drögemüller, Sabina Lutz, Barbara Glanemann, Tosso Leeb, Peter H Kook   +6 more
doaj   +1 more source

The Maize ZmbHLH118 Transcription Factor Regulates Vacuolar Nitrate Loading by the NO3− Transporter ZmCLCa

Advanced Science, EarlyView.
In maize, the bHLH transcription factor ZmbHLH118 directly binds to the promoter of ZmCLCa and inhibits its expression. Tonoplast‐localized ZmCLCa mediates NO3− influx into the vacuole to regulate intracellular NO3− homeostasis, modulating nitrate uptake and metabolism, plant growth, and grain yield.
Chaonan Zhang, Elsa Demes‐Causse, Xujian Li, Zhenhui Guo, Hanshu Zhao, Huairong Cao, Yajing Song, Lijun Mu, Kaikai Zhang, Jing Zhang, Zhongtao Jia, Lixing Yuan, Alexis De Angeli, Jingbo Zhang   +13 more
wiley   +1 more source

Pancancer Fine‐Mapping of Mutational Intolerance Identifies CHEK1 as an Immunosuppressive Driver in Lung Adenocarcinoma

Advanced Science, EarlyView.
This study identifies mutation‐intolerant genes (MIGs), which are mutationally constrained in tumors despite normal‐tissue variability. Using miDriver, the authors pinpoint MIGs essential for tumor‐intrinsic fitness and immune evasion. Focusing on CHEK1, they show it drives tumor fitness and sculpts an immunosuppressive niche via the MIF–CD74 axis ...
Tao Wang, Hongyu Zhao, Xiaojie Sun, Yuqi Ding, Zhipeng Zhu, Xiaotong Yu, Rongyi Zhu, Dan Wang, Kailong Li, Yang Liu, Li‐Bin Wang, Xiaolu Zhao, Baojun Suo, Hongsen Bi, Peipei Zhang, Tong Liu, Fengbiao Mao   +16 more
wiley   +1 more source

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series

BMC Medical Genetics, 2018
Background Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the
Leila Youssefian, Hassan Vahidnezhad, Andrew Touati, Vahid Ziaee, Amir Hossein Saeidian, Sara Pajouhanfar, Sirous Zeinali, Jouni Uitto   +7 more
doaj   +1 more source

Generation of CCR4/CD7 Bispecific CAR‐T Cells Resistant to Fratricide and Exhaustion

Advanced Science, EarlyView.
The applications of CAR T‐cell therapy in T‐cell malignancies face limitations such as fratricide, effector‐cell exhaustion, and antigen‐escape. Herein, we developed fratricide‐ and exhaustion‐resistant CAR‐T cells that targeted CCR4 and CD7 simultaneously, with optional EGFRt safety switch. Additionally, scRNA‐seq unveiled new molecular targets, which
Sile Li, Yuanxin Li, Asif Rashid, Hong Kee Tan, Shing Chan, Man Yan Hui, Wilson Yau Ki Chan, Kee See Lam, Yinping Liu, Wenwei Tu, Wing Leung   +10 more
wiley   +1 more source

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype–phenotype relationship

BMC Pediatrics
Background X-linked intellectual disability-hypotonic facies syndrome-1 (MRXHF1) and Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome are caused by pathogenic variant in the ATRX gene, a member of the switch/sucrose non-fermentable ...
Yishan Wang, Qizhou Ma, Jing Chen, Shaoxin Li, Feifei Zheng, Lei Shi, Xiaoshun Li, Sinan Li, Guanglei Tong, Hong Li   +9 more
doaj   +1 more source

ALKBH3 m1A Demethylase Deficiency Reduces Alzheimer's Amyloid‐β Pathology

Advanced Science, EarlyView.
This study identifies that ALKBH3‐driven m1A demethylation orchestrates Alzheimer's disease progression by disrupting mitochondrial and synaptic homeostasis. This epitranscriptomic mechanism suppresses PINK1‐mediated mitophagy via m1A erasure, leading to mitochondrial dysfunction, oxidative stress, elevated Aβ production, and impaired microglial ...
Yueyang Li, Sifei Yu, Kaidong Lu, Yujie Zhang, Mingjie Dong, Yan Peng, Liang Xue, Waleed Alam, Yuxuan Shui, Yi Zhou, Wuyunhan Ma, Meng Bao, Peiming Li, Peiyi Luo, Tiezhan Lu, Jiajia Li, Kang Zhang, Yuying Wang, Shuchen Yang, Nuoya Yin, Francesco Faiola, Zilong Gao, Jingfeng Zhou, Fei Zhao, Yali He, Magdalena J. Koziol   +25 more
wiley   +1 more source

Additive and Partially Dominant Effects from Genomic Variation Contribute to Rice Heterosis

Advanced Science, EarlyView.
Additive and partially dominant effects, namely at mid‐parent levels or values between mid‐parent and parental levels, respectively, are the predominant inheritance patterns of heterosis‐associated molecules. These two genetic effects contribute to heterosis of agronomic traits in both rice and maize, as well as biomass heterosis in Arabidopsis ...
Zhiwu Dan, Yunping Chen, Wei Zhou, Yanghong Xu, Junran Huang, Yi Chen, Jizhou Meng, Guoxin Yao, Wenchao Huang   +8 more
wiley   +1 more source

Maize Anther Development Involves Translated Open Reading Frames From 3′ Untranslated Regions

Advanced Science, EarlyView.
This study examined the translation activity across ten stages of maize anther development, integrating transcriptome and small‐peptide data. It linked mutations in translated 3' ORFs to anther sterility, exemplified by Zm00001eb417050_3' ORF (known as APV1). In addition, the data indicated that maize anthers could assimilate CO2 through the stomata in
Chunyu Wang, Yuechao Wu, Shunxi Wang, Han Liu, Siqi Jiang, Yingjia Han, Liuji Wu, Tao Zhang, Mei Zhang   +8 more
wiley   +1 more source

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, EarlyView.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source