Channel catfish cytotoxic cells: a mini-review
L Shen, TB Stuge, H Zhou, M Khayat, KS Barker… - Developmental & …, 2002 - Elsevier
The use of allogeneic and autologous lymphoid cell lines has facilitated studies of cytotoxic
T lymphocytes (CTL) and natural killer (NK)-like cells in channel catfish. Naı̈ve catfish …
T lymphocytes (CTL) and natural killer (NK)-like cells in channel catfish. Naı̈ve catfish …
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules
M Gunay-Aygun, TC Falik-Zaccai, T Vilboux… - Nature …, 2011 - nature.com
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is
characterized by large platelets that lack α-granules. Here we show that mutations in …
characterized by large platelets that lack α-granules. Here we show that mutations in …
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p
M Gunay-Aygun, Y Zivony-Elboum… - Blood, The Journal …, 2010 - ashpublications.org
Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by
macrothrombocytopenia and absence of platelet α-granules resulting in typical gray …
macrothrombocytopenia and absence of platelet α-granules resulting in typical gray …
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
Background Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by
mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects …
mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects …
Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat
VM Berginer, B Gross, K Morad, N Kfir, S Morkos… - …, 2009 - publications.aap.org
Cerebrotendinous xanthomatosis is an autosomal recessive disease of bile acid synthesis
caused by 27-hydroxylase deficiency. Treatment with chenodeoxycholic acid normalizes …
caused by 27-hydroxylase deficiency. Treatment with chenodeoxycholic acid normalizes …
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
Y Zivony-Elboum, W Westbroek, N Kfir… - Journal of medical …, 2012 - jmg.bmj.com
Background Members of two seemingly unrelated kindreds of Arab Moslem origin presented
with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual …
with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual …
[HTML][HTML] Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
R Spiegel, A Saada, J Halvardson… - European journal of …, 2014 - nature.com
Isolated metabolic myopathies encompass a heterogeneous group of disorders, with
mitochondrial myopathies being a subgroup, with depleted skeletal muscle energy …
mitochondrial myopathies being a subgroup, with depleted skeletal muscle energy …
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
R Spiegel, M Khayat, SA Shalev, Y Horovitz… - Journal of medical …, 2011 - jmg.bmj.com
Background The TMEM70 gene defect was recently identified as a novel cause of
autosomal recessive ATP synthase deficiency. Most of the 28 patients with TMEM70 …
autosomal recessive ATP synthase deficiency. Most of the 28 patients with TMEM70 …
[HTML][HTML] Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population
JA Sa'd, M Indelman, E Pfendner… - Journal of investigative …, 2006 - Elsevier
Epidermolysis bullosa (EB) encompasses a large group of inherited blistering skin disorders
caused by mutations in at least 10 genes. Numerous studies, mainly performed in European …
caused by mutations in at least 10 genes. Numerous studies, mainly performed in European …
Molecular characterization and high expression during oocyte development of a shrimp ovarian cortical rod protein homologous to insect intestinal peritrophins
M Khayat, PJ Babin, B Funkenstein… - Biology of …, 2001 - academic.oup.com
Penaeoid shrimp oocytes nearing the completion of oogenesis are enveloped in an
acellular vitelline envelope and possess extracellular cortical rods (CRs) that extended into …
acellular vitelline envelope and possess extracellular cortical rods (CRs) that extended into …