Results 191 to 200 of about 451,573 (269)

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples. [PDF]

Natl Sci Rev
Barbitoff YA, Khmelkova DN, Pomerantseva EA, Slepchenkov AV, Zubashenko NA, Mironova IV, Kaimonov VS, Polev DE, Tsay VV, Glotov AS, Aseev MV, Shcherbak SG, Glotov OS, Isaev AA, Predeus AV.   +14 more
europepmc   +1 more source

Phenotypic correlations of CALR mutation variant allele frequency in patients with myelofibrosis. [PDF]

Blood Cancer J, 2023
Guglielmelli P, Maccari C, Sordi B, Balliu M, Atanasio A, Mannarelli C, Capecchi G, Sestini I, Coltro G, Loscocco GG, Rotunno G, Angori E, Borri FC, Tefferi A, Vannucchi AM.   +14 more
europepmc   +1 more source

Determining SNP Allele Frequencies in DNA Pools [PDF]

, 2000
Gerome Breen, Denise Harold, Stuart H. Ralston, Duncan Shaw, David St Clair   +4 more
openalex   +1 more source

KLF1 Promotes Cardiomyocyte Proliferation and Heart Regeneration Through Regulation of Wnt/β‐Catenin Signaling Pathway

Advanced Science, EarlyView.
In KLF1‐on (neonatal and Klf1 overexpression hearts) models, KLF1 regulates Wnt/β‐catenin signaling pathway and the expression of cell proliferation‐related genes via transcriptional and epigenetic mechanisms, which induces cardiomyocyte proliferation and cardiac regeneration in mice after myocardial infarction.
Yanglin Hao, Xi Zhang, Shuan Ran, Yuan Li, Weicong Ye, Song Wang, Xiaohan Li, Zilong Luo, Jiulu Zhao, Junjie Zong, Kexiao Zheng, Ran Li, Han Zhang, Longyong Lai, Pinyan Huang, Zifeng Zou, Wang Zhan, Zhang Yue, Jie Wu, Jiahong Xia   +19 more
wiley   +1 more source

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Pathogenic Variants Spectrum and Allele Frequency of the CFTR Gene in Asians. [PDF]

Allergy Asthma Immunol Res, 2022
Kim JW.
europepmc   +1 more source

Pharmacogenetics of catechol-O-methyltransferase: Frequency of low activity allele in a Ghanaian population [PDF]

, 2000
Margaret‐Mary Ameyaw, Ann-Christine Syv�nen, Ismo Ulmanen, David Ofori‐Adjei, Howard L. McLeod   +4 more
openalex   +1 more source

An Insect Salivary Sheath Protein Triggers Plant Resistance to Insects and Pathogens as a Conserved HAMP

Advanced Science, EarlyView.
The salivary sheath protein myosin from SBPH is critical for the formation of the salivary sheath and feeding. However, myosin functions as a HAMP and triggered plant BAK1‐mediated PTI responses, which include the activation of calcium signaling pathways, MAPK phosphorylation, ROS bursts, and cell death, thereby triggering JA pathway.
Liangxuan Qi, Jing Li, Shuai Li, Jing Li, Han Wang, Lei Yang, Xinyang Tan, Zhichang Zhao, Guanghua Luo, Maofeng Jing, Ary A. Hoffmann, Jichao Fang, Rui Ji   +12 more
wiley   +1 more source

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022
Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont   +14 more
wiley   +1 more source