Results 241 to 250 of about 304,424 (378)

METTL14‐Induced M6A Methylation Increases G6pc Biosynthesis, Hepatic Glucose Production and Metabolic Disorders in Obesity

Advanced Science, EarlyView.
It is shown that obesity is associated with increases in hepatic METTL14 and m6A methylation of G6pc transcript. YTHDF1 and YTHDF3 bind to m6A‐marked G6pc mRNA to increase its synthesis. Hepatocyte‐specific deletion of Mettl14 decreases G6pc m6A methylation, G6pc biosynthesis, and G6pc‐mediated gluconeogenesis, alleviating glucose metabolic defects in ...
Qiantao Zheng, Xiao Zhong, Qianqian Kang, Zhiguo Zhang, Decheng Ren, Yong Liu, Liangyou Rui   +6 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Adult Growth Hormone Deficiency (AGHD) and Outcomes (NordiNet and ANSWER). [PDF]

J Endocr Soc
Carmichael JD, Kargi AY, Dichtel L, Kelepouris N, Nedjatian N, Fridman M, Weber MM.   +6 more
europepmc   +1 more source

Preclinical Investigations of a Novel PEGylated Long-Acting Human Growth Hormone

Drug Design, Development and Therapy
Jun Wang,1,2 He Wang,1,2 Rong Wang,1,2 Yu Zhuang,1,2 Chenyang Jiang,1,2 Baixue Zhao,1,2 Zhen Xu,1,2 Bruce Yong Ma1,2 1Zonhon Biopharma Institute, Inc., Changzhou, Jiangsu, People’s Republic of China; 2Jiangsu Engineering Research Center for Precision ...
Wang J, Wang H, Wang R, Zhuang Y, Jiang C, Zhao B, Xu Z, Ma BY   +7 more
doaj  

Growth hormone deficiency

Biomedicine & Pharmacotherapy, 1994
openaire   +2 more sources

Ethylene‐Activated E3 Ubiquitin Ligase MdEAEL1 Promotes Apple Fruit Softening by Facilitating the Dissociation of Transcriptional Repressor Complexes

Advanced Science, EarlyView.
Ethylene‐activated MdEAEL1 mediates the disassembly of the MdZFP3‐MdTPL4‐MdHDA19 transcriptional repression complex, upregulating the histone acetylation levels in the promoter regions of cell wall degradation‐related genes, consequently promoting softening during storage.
Tong Li, Li Liu, Guangxin Yang, Yingcong Cai, Yingda Wang, Bowen Sun, Le Sun, Weiting Liu, Aide Wang   +8 more
wiley   +1 more source

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 479-489, February 2023., 2023
Abstract To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across populations.
Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink‐Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke   +16 more
wiley   +1 more source

Nitric oxide may mediate the hemodynamic effects of recombinant growth hormone in patients with acquired growth hormone deficiency. A double-blind, placebo-controlled study. [PDF]

, 1996
Rainer H. Böger, C Skamira, Stefanie M. Bode‐Böger, G. Brabant, A. von zur Mühlen, Jürgen C. Frölich   +5 more
openalex   +1 more source

Unveiling Salt Tolerance Mechanisms in Plants: Integrating the KANMB Machine Learning Model With Metabolomic and Transcriptomic Analysis

Advanced Science, EarlyView.
Salt stress endangers coastal cereal crops, requiring resilient crop solutions. This study employs machine learning (KANMB) to analyze multi‐omics data from halophyte Spartina alterniflora, revealing 226 salt‐stress biomarkers and linking them to tolerance pathways. The MYB gene SaMYB35 regulates flavonoid biosynthesis under salinity.
Shoukun Chen, Hao Zhang, Shuqiang Gao, Kunhui He, Tingxi Yu, Shang Gao, Jiankang Wang, Huihui Li   +7 more
wiley   +1 more source

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 526-539, February 2023., 2023
Abstract Deletion of 17p13.3 has varying degrees of severity on brain development based on precise location and size of the deletion. The most severe phenotype is Miller–Dieker syndrome (MDS) which is characterized by lissencephaly, dysmorphic facial features, growth failure, developmental disability, and often early death.
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin   +9 more
wiley   +1 more source