Results 141 to 150 of about 464,487 (319)

HEREDITARY FORMATIONS. [PDF]

The Lancet
n ...
openaire   +2 more sources

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source

Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer.

, 1997
BACKGROUND & AIMS: Germline mutations in four DNA mismatch repair genes are known to cause susceptibility to hereditary nonpolyposis colorectal cancer (HNPCC).
Peltomäki P, PONZ DE LEON, Maurizio, The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer, Vasen HF   +3 more
core  

Caracterització i identificació de les formes hereditàries de càncer colorectal [PDF]

, 2008
[cat] El càncer colorectal (CCR) és una de les neoplàsies més prevalents en els països occidentals, i un dels tumors en el que els factors genètics juguen un paper fonamental en el seu desenvolupament.
Balaguer Prunés, Francesc
core  

The ubiquitin ligase RNF115 is required for the clearance of damaged lysosomes

FEBS Letters, EarlyView.
Upon lysosomal rupture, an E3 ubiquitin ligase RNF115 translocates from the cytosol to the damaged lysosomal membrane. Moreover, RNF115 depletion impairs the clearance of damaged lysosomes, identifying it as a key regulator of lysosomal quality control.
Sae Nakanaga, Toshiki Takahashi, Akiko Kuma, Hiroyuki Kawahara   +3 more
wiley   +1 more source

Case report: ZFYVE19 gene mutation is associated with familial cholestasis

Frontiers in Medicine
The etiology of cholestatic liver disease is complex, with clinical manifestations being nonspecific, and biochemical abnormalities mainly characterized by elevated alkaline phosphatase (ALP) and glutamyl transpeptidase (GGT). Due to the lack of specific
Mei-Yan Xue, Mei-Yan Xue, Ling-Ling Huang, Ling-Ling Huang, Yue-Yong Zhu, Yue-Yong Zhu, Yue-Yong Zhu, Qi Zheng, Qi Zheng   +8 more
doaj   +1 more source

Organizing the interface—Plasma membrane architecture and receptor dynamics in virus‐cell interactions

FEBS Letters, EarlyView.
Plasma membranes contain dynamic nanoscale domains that organize lipids and receptors. Because viruses operate at similar scales, this architecture shapes early infection steps, including attachment, receptor engagement, and entry. Using influenza A virus and HIV‐1 as examples, we highlight how receptor nanoclusters, multivalent glycan interactions ...
Jan Schlegel, Christian Sieben
wiley   +1 more source

Hereditary Scoliosis [PDF]

BMJ, 1934
openaire   +2 more sources

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source