Results 251 to 260 of about 2,161,661 (318)

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

Harnessing the stem cell potential in the human hippocampus to limit cognitive aging. [PDF]

PLoS Biol
Mhatre S, Moore DL.
europepmc   +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

Target receptor expression dictates the selective intra-tumoral targeting of CD8⁺ T cells by eciskafusp alfa in matched PBMCs and TILs from CPI-naïve patients. [PDF]

Front Immunol
Manchala A, Varypataki EM, Charo J, Umaña P, Klein C, Codarri Deak L.   +5 more
europepmc   +1 more source

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

Identification of missense variants in the C-domains of von Willebrand factor that cause gain-of-function-like activity. [PDF]

Blood Adv
Mobayen G, Liu Y, Gong F, Seidizadeh O, Feller T, Chion A, Ignat A, Appiah M, Rothery S, Zhang XF, McKinnon TAJ.   +10 more
europepmc   +1 more source

Identification of QTLs Associated with Stem Breaking Strength and Development of InDel Markers in Soybean Using BSA-Seq. [PDF]

Plants (Basel)
Leng P, Deng K, An J, Yang W, Liang J, Feng J, Wu H, Zhang L, Liu L, Chen H, Yu X, Zeng Z.   +11 more
europepmc   +1 more source

RETRACTION: NNK From Tobacco Smoking Enhances Pancreatic Cancer Cell Stemness and Chemoresistance by Creating a β2AR‐Akt Feedback Loop That Activates Autophagy

Molecular Oncology, EarlyView.
wiley   +1 more source

What Is the Current State of Stem Cell Therapy in Diabetes? [PDF]

Cells
Bakinowska E, Biniek WJ, Kiełbowski K, Dyrka K, Szewczyk K, Ostałowska H, Leciej Z, Pawlik A.   +7 more
europepmc   +1 more source

Mathematical modeling of <i>JAK2V617F</i> clonal expansion in a general population cohort. [PDF]

Proc Natl Acad Sci U S A
Snyder J, Andersen M, Gudmand-Høyer J, Larsen MK, Skov V, Kjær L, Eickhardt-Dalbøge CS, Knudsen TA, Ellervik C, Hasselbalch HC, Ottesen JT, Stiehl T.   +11 more
europepmc   +1 more source