Results 241 to 250 of about 407,038 (348)

Different exon-intron organization at the 5' part of a mouse class I gene is used to generate a novel H-2Kd-related mRNA.

, 1983
Jean‐Louis Lalanne, Madeleine Cochet, Arthur Kümmer, Gabriel Gachelin, Philippe Kourilsky   +4 more
openalex   +1 more source

Hierarchical Regulatory Networks Reveal Conserved Drivers of Plant Drought Response at the Cell‐Type Level

Advanced Science, EarlyView.
This study presents a comprehensive multi‐omics framework to uncover cell‐type‐specific regulatory networks in plant drought responses. By integrating transcriptomic, proteomic, and epigenetic data from nearly 30 000 samples, key regulators such as CIPK23 and NLP7 are identified, revealing insights into conserved drought tolerance mechanisms and ...
Moyang Liu, Yuanyuan Xu, Yue Song, Dongying Fan, Junpeng Li, Zhen Zhang, Lujia Wang, Juan He, Cheng Chen, Chao Ma   +9 more
wiley   +1 more source

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer   +30 more
wiley   +1 more source

Genomic testing for RET in the clinic: UK and global perspective. [PDF]

Endocr Relat Cancer
Izatt L.
europepmc   +1 more source

MeCP2 Lactylation Protects against Ischemic Brain Injury by Transcriptionally Regulating Neuronal Apoptosis

Advanced Science, EarlyView.
MeCP2 lactylation protects against ischemic stroke by reducing brain infarct volume and improving neurological outcomes. Lactylation at K210/K249 exerts neuroprotective effects by repressing the transcription of apoptosis‐associated genes, including Pdcd4 and Pla2g6. HDAC3 and p300 serve as key regulatory enzymes for MeCP2 lactylation following stroke.
Min Sun, Yuxin Zhang, Rui Mao, Yan Chen, Pinyi Liu, Lei Ye, Siyi Xu, Junqiu Jia, Shu Shu, Huiya Li, Yanping Yin, Shengnan Xia, Yanting Chen, Yun Xu   +13 more
wiley   +1 more source

OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development. [PDF]

Skelet Muscle
Oghabian A, Jonson PH, Gayathri SN, Johari M, Nippala E, Andres DG, Munell F, Soriano JC, Duran MAS, Sinisalo J, Tolppanen H, Tolva J, Hackman P, Savarese M, Udd B.   +14 more
europepmc   +1 more source

Regulated expression of exon v6 containing isoforms of CD44 in man: downregulation during malignant transformation of tumors of squamocellular origin [PDF]

, 1993
Marko Salmi, K Grön-Virta, P Sointu, Reidar Grénman, Hannu Kalimo, Sirpa Jalkanen   +5 more
openalex   +1 more source

ASCOT identifies key regulators of neuronal subtype-specific splicing [PDF]

, 2020
Blackshaw, Seth, Charles, Rone, Clark, Brian S., Ghosh, Devlina, Jiang, Lizhi, Langmead, Ben, Leavey, Patrick J., Ling, Jonathan P., Nellore, Abhinav, Pang, Bo, Santiago, Clayton P., Venkataraman, Anand, Wilks, Christopher   +12 more
core   +1 more source

Oxytocin Improves Autistic Behaviors by Positively Shifting GABA Reversal Potential via NKCC1 in Early‐Postnatal‐Stage

Advanced Science, EarlyView.
New research reveals that oxytocin signaling during the early postnatal period is critical for regulating brain development and social behavior. Selectively suppressing oxytocin neurons by chemogenetic method shows that early—but not late—disruption leads to autism‐like behaviors.
Zi‐Hui Wang, Chang Xu, Yao‐Yao Ma, Wei‐Xuan Xue, Hao‐Yuan Wang, Lin‐Yao Fan, Chen‐Yu Zhang, Liang Li, Xiao‐Yang Zhang, Jing‐Ning Zhu, Qi‐Peng Zhang   +10 more
wiley   +1 more source

LUC7 proteins define two major classes of 5' splice sites in animals and plants. [PDF]

Nat Commun
Kenny CJ, McGurk MP, Schüler S, Cordero A, Laubinger S, Burge CB.   +5 more
europepmc   +1 more source