Results 71 to 80 of about 176,213 (311)

p53 Missense Mutation is Associated with Immune Cell PD-L1 Expression in Triple-Negative Breast Cancer

, 2022
The programmed death ligand 1 (PD-L1) is a pivotal biomarker of immunotherapy in triple negative breast cancer (TNBC). TP53 is reported as a positive regulatory predictor of immune efficacy.
Ai-Yan Xing (10730613), Ke Liang (59886), Long Liu (390523), Bin Wang (30851)   +3 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura

, 2008
Background: Thrombotic thrombocytopenic purpura (TTP) is most commonly associated with deficiency or inhibition of von Willebrand factor-cleaving protease (ADAMTS-13) activity.
Cohen, H., Machin, S.J., Crawley, J.T.B., Camilleri, R., Mackie, I.J., Skully, M., Lane, D.A., Starke, R.D.   +7 more
core   +1 more source

A method and server for predicting damaging missense mutations [PDF]

Nature Methods, 2010
To the Editor: Applications of rapidly advancing sequencing technologies exacerbate the need to interpret individual sequence variants. Sequencing of phenotyped clinical subjects will soon become a method of choice in studies of the genetic causes of Mendelian and complex diseases.
Adzhubei, I., Schmidt, S. ; https://orcid.org/0000-0001-9077-6010, Peshkin, L., Ramensky, V., Gerasimova, A., Bork, P., Kondrashov, A., Sunyaev, S.   +7 more
openaire   +3 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro

Italian Journal of Pediatrics
Background Pyruvate dehydrogenase (PDH) deficiency is an uncommon condition responsible for primary refractory lactic acidosis, and PDH E1β (PDHB) subunit gene mutation rarely causes of PDH deficiency.
Ying Li, Lin Cheng, Xin Li, Jiyu Liu, Lu Yi, Tao Bo   +5 more
doaj   +1 more source

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood

, 2005
BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1.
Haworth, SG, Berger, R; id_orcid, Aldred, M A, Morrell, NW, Harrison, RE, Morrell, Nicholas W., Morrell, N W, Mache, CJ, Haworth, S G, Trembath, R C, Mache, Christoph J., Aldred, MA, Trembath, RC, Berger, Rolf, Aldred, Micheala A., Berger, R, Tulloh, R, Harrison, R E, Harrison, Rachel E., Haworth, Sheila G., Mache, C J, Trembath, Richard C., Tulloh, Robert   +22 more
core   +1 more source

Generalized Comedones, Acne, and Hidradenitis Suppurativa in a Patient with an FGFR2 Missense Mutation [PDF]

, 2017
Mutations in the fibroblast growth factor-receptor gene 2 (FGFR2) gene have been implicated in numerous diseases, including nevus comedonicus (NC) and naevoid acne that have somatic missense mutations in FGFR2 in the affected tissue.
Nikhil Yawalkar, Rebecca Higgins, Higgins, Rebecca, Hunger, Robert, Navarini, Alexander A, Andrew Pink, Pink, Andrew, Yawalkar, Nikhil, Robert Hunger, Alexander A. Navarini, Navarini, Alexander A.   +10 more
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Effect of the R569W Missense Mutation on the Biosynthesis of Myeloperoxidase [PDF]

Journal of Biological Chemistry, 1996
Human neutrophil microbicidal activity is largely mediated by reactive species generated by the oxygen-dependent myeloperoxidase (MPO) system. Peroxidase-negative neutrophils from many patients with hereditary MPO deficiency possess a 90-kDa MPO-related protein.
W M, Nauseef, M, Cogley, S, McCormick
openaire   +2 more sources