Results 261 to 270 of about 582,559 (301)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

The genetic polymorphism of human alpha1-acid glycoprotein

, 1989
Baumann, Pierre, Eap, Chin B.
core  

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Sickle Cell Disease and Kidney Injury: Circulating Uromodulin Allows Early Tissue Specific Diagnosis and Monitoring of Treatment

American Journal of Hematology, EarlyView.
Ferras Alashkar, Robert Hable, Denise Zwanziger, Friederike Poppenborg, Raina Yamamoto, Hans Christian Reinhardt, Alexander Röth, Victor Herbst, Yara Bestmann, Marco Kai, Jürgen E. Scherberich   +10 more
wiley   +1 more source

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Schisandrin B—A novel inhibitor of P-glycoprotein

Biochemical and Biophysical Research Communications, 2005
P-glycoprotein-mediated drug efflux is one of the major causes of the cancer multidrug resistance (MDR). Inhibition of P-glycoprotein could reverse cancer MDR. Here, we show that schisandrin B, a naturally occurring compound from Schisandra chinensis (Turcz.) Baill, bears strong potency to inhibit P-glycoprotein.
Xun Hu
exaly   +3 more sources

Localization of the ammonium transporters, Rh B glycoprotein and Rh C glycoprotein, in the mouse liver

Gastroenterology, 2003
Hepatic ammonium metabolism is critical for maintenance of normal health. Three mammalian members of an ammonium transporter family have recently been identified: Rh A glycoprotein (RhAG), Rh B glycoprotein (RhBG), and Rh C glycoprotein (RhCG). This study examined which of these are expressed in the mouse liver and in which cells they are expressed ...
I David Weiner, Jill W Verlander
exaly   +3 more sources

Characterization of the Glycoprotein B Gene from Ruminant Alphaherpesviruses

Virus Genes, 2002
The complete open reading frame and promoter region of the glycoprotein B (gB) gene has been identified and sequenced from five poorly characterized alphaherpesviruses of ruminants, bovine herpesvirus 5 (BHV-5), buffalo herpesvirus 1 (BuHV-1), cervine herpesvirus 1 (CerHV-1), rangiferine herpesvirus 1 (RanHV-1), and caprine herpesvirus 1 (CapHV-1). One
Ros C, Belák S
openaire   +4 more sources

Common antigenic epitopes are present on heat-labile oligomers of MDV glycoprotein B and on HSV glycoprotein B

Virus Research, 1995
The antigenic cross-reactivity between the Marek's disease virus glycoprotein B (MDV gB) and glycoprotein B (gB) of herpes simplex virus type 1 and 2 (HSV1 and HSV2) was analysed by the immunoblotting method. We studied cell lysates in both denatured and in undenatured form (i.e., unheated) and reacted them with convalescent sera from chickens infected
I, Davidson, A, Tanaka, M, Nonoyama
openaire   +2 more sources