نتایج جستجو برای: hi gene

تعداد نتایج: 1154693  

2012
A Sahota G Kendall S Lange G Raivich

Introduction An increasing body of evidence suggests a synergistic link between infection/inflammation and hypoxia-ischaemia in the pathogenesis of perinatal brain injury. Deletion of the TNF cytokine gene cluster (TNF, LTa and LTb) has previously been shown to abolish lipopolysaccharide (LPS)-mediated sensitisation of the developing brain to hypoxic-ischaemic (HI) insult. In this study, I inve...

Journal: :Avian diseases 2007
David E Swayne Gloria Avellaneda Thomas R Mickle Nikki Pritchard Julio Cruz Michel Bublot

In general, avian influenza (AI) vaccines protect chickens from morbidity and mortality and reduce, but do not completely prevent, replication of wild AI viruses in the respiratory and intestinal tracts of vaccinated chickens. Therefore, surveillance programs based on serological testing must be developed to differentiate vaccinated flocks infected with wild strains of AI virus from noninfected...

Journal: :Journal of applied physiology 2009
Nathan A Bexfield Allen C Parcell W Bradley Nelson Kristopher M Foote Gary W Mack

In humans, exercise-induced plasma volume (PV) expansion is typically associated with an increase in plasma albumin content, due in part to an increase in hepatic albumin synthesis. We tested the ability of a 12-day high-intensity intermittent exercise protocol to induce an increase in PV in rodents. Since albumin synthesis is transcriptionally regulated, we tested the hypothesis that exercise ...

2012
Anne L. Bishop Abdullah A. Tarique Bharathi Patimalla Stephen B. Calderwood Firdausi Qadri Andrew Camilli

BACKGROUND Vibrio cholerae excreted by cholera patients is "hyperinfectious" (HI), which can be modeled by passage through infant mice. Immunization of adult female mice with V. cholerae outer-membrane vesicles (OMVs) passively protects suckling mice from challenge. Although V. cholerae is unable to colonize protected pups, the bacteria survive passage and have the potential to be transmitted t...

2010
Ni Huang Insuk Lee Edward M. Marcotte Matthew E. Hurles

Haploinsufficiency, wherein a single functional copy of a gene is insufficient to maintain normal function, is a major cause of dominant disease. Human disease studies have identified several hundred haploinsufficient (HI) genes. We have compiled a map of 1,079 haplosufficient (HS) genes by systematic identification of genes unambiguously and repeatedly compromised by copy number variation amon...

Journal: :American journal of human genetics 2005
Rikkert L Snoeckx Patrick L M Huygen Delphine Feldmann Sandrine Marlin Françoise Denoyelle Jaroslaw Waligora Malgorzata Mueller-Malesinska Agneszka Pollak Rafal Ploski Alessandra Murgia Eva Orzan Pierangela Castorina Umberto Ambrosetti Ewa Nowakowska-Szyrwinska Jerzy Bal Wojciech Wiszniewski Andreas R Janecke Doris Nekahm-Heis Pavel Seeman Olga Bendova Margaret A Kenna Anna Frangulov Heidi L Rehm Mustafa Tekin Armagan Incesulu Hans-Henrik M Dahl Desirée du Sart Lucy Jenkins Deirdre Lucas Maria Bitner-Glindzicz Karen B Avraham Zippora Brownstein Ignacio del Castillo Felipe Moreno Nikolaus Blin Markus Pfister Istvan Sziklai Timea Toth Philip M Kelley Edward S Cohn Lionel Van Maldergem Pascale Hilbert Anne-Françoise Roux Michel Mondain Lies H Hoefsloot Cor W R J Cremers Tuija Löppönen Heikki Löppönen Agnete Parving Karen Gronskov Iris Schrijver Joseph Roberson Francesca Gualandi Alessandro Martini Geneviéve Lina-Granade Nathalie Pallares-Ruiz Céu Correia Graça Fialho Kim Cryns Nele Hilgert Paul Van de Heyning Carla J Nishimura Richard J H Smith Guy Van Camp

Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which encodes the connexin 26 protein and is involved in inner ear homeostasis, are found in up to 50% of patients with autosomal recessive nonsyndromic hearing loss. Because of the high frequency of GJB2 mutat...

Journal: :Journal of medical genetics 2016
Jennifer M Kalish Kara E Boodhansingh Tricia R Bhatti Arupa Ganguly Laura K Conlin Susan A Becker Stephanie Givler Lindsey Mighion Andrew A Palladino N Scott Adzick Diva D De León Charles A Stanley Matthew A Deardorff

BACKGROUND Congenital hyperinsulinism (HI) can have monogenic or syndromic causes. Although HI has long been recognised to be common in children with Beckwith-Wiedemann syndrome (BWS), the underlying mechanism is not known. METHODS We characterised the clinical features of children with both HI and BWS/11p overgrowth spectrum, evaluated the contribution of KATP channel mutations to the molecu...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2011
Markus Schober Elaine Fuchs

Cancer stem cells (CSCs) sustain tumor growth through their ability to self-renew and to generate differentiated progeny. These functions endow CSCs with the potential to initiate secondary tumors bearing characteristics similar to those of the parent. Recently the hair follicle stem cell marker CD34 was used to purify a CSC-like cell population from early skin tumors arising from treatment wit...

Journal: :Journal of immunology 2011
Jaikumar Duraiswamy Chris C Ibegbu David Masopust Joseph D Miller Koichi Araki Gregory H Doho Pramila Tata Satish Gupta Michael J Zilliox Helder I Nakaya Bali Pulendran W Nicholas Haining Gordon J Freeman Rafi Ahmed

T cell dysfunction is an important feature of many chronic viral infections. In particular, it was shown that programmed death-1 (PD-1) regulates T cell dysfunction during chronic lymphocytic choriomeningitis virus infection in mice, and PD-1(hi) cells exhibit an intense exhausted gene signature. These findings were extended to human chronic infections such as HIV, hepatitis C virus, and hepati...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید