Results 121 to 130 of about 143,066 (307)

Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates

FEBS Letters, EarlyView.
Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley   +1 more source

A diagnostic and management odyssey of a rare case of rhizomelic chondrodysplasia punctata

Journal of the Pakistan Medical Association
Rhizomelic chondrodysplasia punctata (RCDP) is one of the rare inherited peroxisomal disorders that belongs to the heterogeneous group of chondrodysplasias presenting with proximal shortening of the limbs and distinctive punctate calcifications of bones
Qurat Ul Ain, Alia Halim, Asma Shabbir , Amina Marriam   +3 more
doaj   +1 more source

A Window on the Genetics of Human Speech: The FOXP2 Gene

, 2007
The development of human speech seems to be a species-specific and genetically determined capacity and is considered an extremely important step in the rise of modern humans, human culture and civilisation.
Mink, Mátyás, Solymosi, Mária Ágnes, Szűcs, Edit, Barabás, Katalin   +3 more
core  

Inherited glycosylphosphatidyl inositol deficiency: A treatable CDG

, 2009
Tethering to cell membrane through attachment to the complex glycolipid anchor glycosylphosphatidyl inositol (GPI) is a mode of protein expression highly conserved in eukaryotes. The evolutionary purpose of such an elaborate way of expressing proteins is
Karadimitris, Anastasios, Layton, Mark, Almeida, Antonio   +2 more
core   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Zinc deficiency and its inherited disorders

, 2013
Background: Zinc is an essential trace element required by all living organisms because of its vital role both as a structural component of proteins and as a cofactor in enzymatic catalysis. The importance of zinc in human metabolism characterized by the
Ghasemzadeh, M., Pirooty, Sh.
core  

Subtype‐specific enhancer RNAs define transcriptional regulators and prognosis in breast cancers

Molecular Oncology, EarlyView.
This study employed machine learning methodologies to perform the subtype‐specific classification of RNA‐seq data sets, which are mapped on enhancers from TCGA‐derived breast cancer patients. Their integration with gene expression (referred to as ProxCReAM eRNAs) and chromatin accessibility profiles has the potential to identify lineage‐specific and ...
Aamena Y. Patel, Peyman Zarrineh, Nathnael T. Tuffa, Jigar H. Sheth, Sumitra Mohan, Mudassar Iqbal, Sankari Nagarajan   +6 more
wiley   +1 more source

Dimethyl fumarate combined with cisplatin at subcytotoxic doses sensitizes cervical cancer toward ferroptosis and apoptosis through GSH restriction and p53 (re)activation

Molecular Oncology, EarlyView.
Dimethyl fumarate (DMF) reduces growth of HPV‐positive cervical cancer spheroids and induces ferroptosis in cervical cancer cells via blocking SLC7A11/Glutathione (GSH) axis. Combination of subcytotoxic doses of DMF and cisplatin (CDDP) further suppresses spheroid growth and drives cell death in 2D culture models.
Carolina Punziano, Giuseppina Minopoli, Simona Romano, Laura Marrone, Katia Aquilano, Maria Lina Tornesello, Raffaella Faraonio   +6 more
wiley   +1 more source

Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder

, 2011
Congenital afibrinogenemia is a very rare autosomal recessive disorder, results from mutation that affects plasma fibrinogen concentration. It is frequently associated with bleeding diathesis of varying severity.
UK Shenoy, U K Shenoy, Sham Sunder Goyal, Bhavya Reddy, D Vimal Bhardwaj, ShamSunder Goyal, DVimal Bhardwaj   +6 more
core   +1 more source