Results 101 to 110 of about 30,288 (231)

Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family

Genetics and Molecular Biology, 2017
X-linked intellectual disability (XLID) has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID), is often hampered by the heterogeneity of this disease.
Yongheng Duan, Sheng Lin, Lichun Xie, Kaifeng Zheng, Shiguo Chen, Hui Song, Xuchun Zeng, Xueying Gu, Heyun Wang, Linghua Zhang, Hao Shao, Wenxu Hong, Lijie Zhang, Shan Duan   +13 more
doaj   +1 more source

Activation of Escherichia coli phosphoenolpyruvate carboxylase by guanosine‐5′‐diphosphate‐3′‐diphosphate

FEBS Letters, 1977
Bacteria such as Escherichia coli respond to amino acid starvation by reducing the rate of syntheses of RNA, lipids, nucleotides and glycolytic esters [1,2]. This phenomenon is termed ‘stringent response’. It has been pointed out that, concomitant with this cellular response, a sharp increase in the intracellular levels of guanosine$-diphosphate3 ...
Taguchi, Masaaki, Izui, Katsura, Katsuki, Hirohiko   +2 more
openaire   +2 more sources

Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene

Clinical Case Reports, Volume 14, Issue 6, June 2026.
This patient was admitted to the hospital 43 h after birth with convulsions and hypoglycemia, presenting as recurrent refractory hypoglycemia that was difficult to control with conventional medication. Whole exome sequencing detected the GLUD1 (NM_005271.3:c.1495G>T, p.Gly499Cys) variant, which was a de novo variant in the patient and was not detected ...
Tingyu Li, Tianyi Liu, Lujuan Li, Yang Liu, Qi Zhang, Xian Cheng, Zhong Li   +6 more
wiley   +1 more source

Guanosine triphosphatase stimulation of oncogenic Ras mutants

, 1999
Interest in the guanosine triphosphatase (GTPase) reaction of Ras as a molecular drug target stems from the observation that, in a large number of human tumors, Ras is characteristically mutated at codons 12 or 61, more rarely 13, Impaired GTPase ...
Wittinghofer, A., Vogt, Dorothee, Ahmadian, M., Selinger, Zvi, Scheffzek, Klaus, Selinger, Z., Ahmadian, Mohammad Reza, Wittinghofer, Alfred, Zor, Tsaffrir, Vogt, D., Kabsch, W., Kabsch, Wolfgang, Scheffzek, K., Zor, T.   +13 more
core   +1 more source

Guanosine diphosphate glucose and guanosine diphosphate fructose from Eremothecium ashbyii [PDF]

Biochemical Journal, 1959
H G, PONTIS, A L, JAMES, J, BADDILEY
openaire   +3 more sources

ProTides for Antiviral Activity Beyond Liver Cells

Chemistry – A European Journal, Volume 32, Issue 21, 1 June 2026.
A strategy for obtaining prodrugs of antiviral nucleotides with broad tissue activity is presented that relies on cycloalkyl or cycloalkylalkyl esters, improving uptake and esterase cleavage, and producing nanomolar inhibitors in kidney, colon, and lung cells.
Felix Goebel, Adrian Humboldt, Heeyoung Kim, Carl J. M. Schölzel, Ralf Bartenschlager, Clemens Richert   +5 more
wiley   +1 more source

Role of Substrates and Products of PI 3-kinase in Regulating Activation of Rac-Related Guanosine Triphosphatases by Vav

, 1998
Mitogen stimulation of cytoskeletal changes and c-jun amino-terminal kinases is mediated by Rac small guanine nucleotide-binding proteins. Vav, a guanosine diphosphate (GDP)–guanosine triphosphate (GTP) exchange factor for Rac that stimulates the ...
Jaewon Han, Raymond D. Mosteller, Xiaodong Shu, U. Murali Krishna, Balaka Das, Yi Xia, Daniel Broek, John R. Falck, Katherine Luby-Phelps, Michael A. White   +9 more
core   +1 more source

Detection and characterisation of NAD(P)H-diaphorase activity in Dictyostelium discoideum cells (Protozoa)

European Journal of Histochemistry, 2012
In Dictyostelium discoideum (D. discoideum), compounds generating nitric oxide (NO) inhibit its aggregation and differentiation without altering cyclic guanosine monophosphate (cGMP) production.
A. Amaroli, M.G. Chessa
doaj   +1 more source

The Role of N6‐Methyladenosine Modification in Health and Disease

MedComm, Volume 7, Issue 6, June 2026.
N6‐methyladenosine (m6A) is the most prevalent internal RNA modification in eukaryotes, acting as a pivotal epitranscriptomic regulator of RNA metabolism. This modification plays a dual role: it maintains physiological homeostasis under normal conditions but drives disease progression when dysregulated.
Linghuan Li, Yuanhai Sun, Wanfang Zheng, Lingqin Li, Yaqian Feng, Minyou Qi, Hanbing Li   +6 more
wiley   +1 more source

Acute Lung Injury: From Molecular Circuits to System‐Level Therapeutics

MedComm, Volume 7, Issue 6, June 2026.
This visual summary illustrates the paradigm shift from linear pathways to network medicine in ALI. Three interconnected circuits—innate immunity, immunometabolism, and cell death (PANoptosis)—drive disease progression under multiorgan crosstalk (gut–lung, brain–lung).
Yaoli Hou, Sheng He, Lili He, Kun Liu, Wen Tang, Deming Wang, Jing Gui, Zhiying Zeng, Yan Wang, Wenjie Liu, Ren Jing   +10 more
wiley   +1 more source