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Scholar Results 1 - 10 of about 31 citing Biason-Lauber: Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused.... (0.14 sec) 

Coping with stress: eIF2 kinases and translational control


R Wek, H Jiang, T Anthony - Biochemical Society Transactions, 2006 - bst.portlandpress.co.uk
Abbreviations used: ATF, activating transcription factor; bZIP, basic leucine zipper; CHOP,
CCAAT/enhancer-binding protein homologous protein; eIF2, eukaryotic initiation factor 2;
EIF2AK, eIF2a kinase; ER, endoplasmic reticulum; GADD153, growth arrest and DNA- ...
Cited by 152 - Related articles - Cached - BL Direct - All 10 versions

eIF2 and the control of cell physiology


CG Proud - Seminars in Cell and Developmental Biology, 2005 - Elsevier
Eukaryotic initiation factor eIF2 and its 'exchange factor' eIF2B play a key role in the regulation
of protein synthesis in eukaryotes from yeast to mammals. Phosphorylation of eIF2 inhibits eIF2B
and thus translation initiation. Four eIF2 kinases are now known in mammalian cells and ...
Cited by 95 - Related articles - All 5 versions

ER chaperone functions during normal and stress conditions


Y Ma, LM Hendershot - Journal of Chemical Neuroanatomy, 2004 - Elsevier
Nearly all resident proteins of the organelles along the secretory pathway, as well as proteins
that are expressed at the cell surface or secreted from the cell, are first co-translationally translocated
into the lumen of the endoplasmic reticulum (ER) as unfolded polypeptide chains. ...
Cited by 78 - Related articles - All 2 versions

A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46, …

- shouxi.net
A Biason-Lauber, D Konrad, F Navratil, EJ … - The New England …, 2004 - nejm.highwire.org
WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the
biosynthesis of gonadal androgen in female mammals. An 18-year-old woman presented with
primary amenorrhea and an absence of müllerian-derived structures, unilateral renal ...
Cited by 73 - Related articles - All 9 versions

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes


W Trust - Human mutation - interscience.wiley.com
Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia
constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase
(GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM ...
Cited by 70 - Related articles - All 4 versions

Calcium dynamics and endoplasmic reticular function in the regulation of protein …


MA Brostrom, CO Brostrom - Cell Calcium, 2003 - Elsevier
The endoplasmic reticulum (ER) possesses the structural and functional features expected of
an organelle that supports the integration and coordination of major cellular processes. Ca
2+ sequestered within the ER sustains lumenal protein processing while providing a ...
Cited by 58 - Related articles - All 6 versions

Wolcott-Rallison Syndrome

- diabetesjournals.org
V Senée, KM Vattem, M Delépine, LA Rainbow, C … - Diabetes, 2004 - Am Diabetes Assoc
Wolcott-Rallison syndrome (WRS) is a rare autosomal-recessive disorder characterized by the
association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal
dysplasia and growth retardation, and other variable multisystemic clinical manifestations. ...
Cited by 55 - Related articles - BL Direct - All 8 versions

Diabetes and Insulin Secretion

- diabetesjournals.org
JC Koster, MA Permutt, CG Nichols - Diabetes, 2005 - Am Diabetes Assoc
The ATP-sensitive K + channel (K ATP channel) senses metabolic changes in the pancreatic
β-cell, thereby coupling metabolism to electrical activity and ultimately to insulin secretion. When
K ATP channels open, β-cells hyperpolarize and insulin secretion is suppressed. The ...
Cited by 43 - Related articles - BL Direct - All 5 versions

Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible …


A Biason-Lauber, B Boehm, M Lang-Muritano, BR … - Diabetologia, 2005 - Springer
Page 1. Diabetologia (2005) 48: 900–905 DOI 10.1007/s00125-005-1723-5 ARTICLE A.
Biason-Lauber . B. Boehm . M. Lang-Muritano . BR Gauthier . T. Brun . CB Wollheim . EJ
Schoenle Association of childhood type 1 diabetes mellitus with a variant ...
Cited by 30 - Related articles - All 4 versions

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new …

- bmj.com [PDF] 
S Brickwood, DT Bonthron, LI Al-Gazali, K Piper, T … - British Medical …, 2003 - jmg.bmj.com
W olcott-Rallison syndrome (OMIM 226980) is a rare autosomal recessive disorder characterised
by per- manent insulin requiring diabetes developing in the newborn period or early infancy,
an early tendency to skeletal fractures, and spondyloepiphyseal dysplasia. 1–8 The ...
Cited by 24 - Related articles - BL Direct - All 11 versions


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