Results 71 to 80 of about 176,215 (308)

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

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

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

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

Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation

Molecular Genetics & Genomic Medicine, 2020
Background Fanconi anemia (FA) is a rare recessive disease characterized by DNA damage repair deficiency, and DNA polymerase δ (whose catalytic subunit is encoded by POLD1, also known as CDC2) is closely related to DNA damage repair.
Jing Liu, Yu Liu, Jingxuan Fu, Chengeng Liu, Tingting Yang, Xiaomin Zhang, Min Cao, Peichang Wang   +7 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

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

BMC Medical Genetics, 2017
Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.
Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung   +7 more
doaj   +1 more source