Results 121 to 130 of about 1,336,426 (267)

Rare variants and disease [PDF]

Briefings in Functional Genomics, 2014
openaire   +2 more sources

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

S204: SAFETY AND TOLERABILITY OF CAEL-101, AN ANTI-AMYLOID MONOCLONAL ANTIBODY, COMBINED WITH ANTI-PLASMA CELL DYSCRASIA THERAPY IN PATIENTS WITH LIGHT-CHAIN AMYLOIDOSIS: 18-MONTH RESULTS OF A PHASE 2 STUDY

HemaSphere, 2023
Jason Valent, Michaela Liedtke, Jeffrey Zonder, Maria Angelica Molina, Chandrasekhar Udata, Juliana Ianus, John Tripptree, Julia Catini, C Cristina Quarta   +8 more
doaj   +1 more source

Mapping the rare disease stakeholders in India. [PDF]

PLOS Glob Public Health
Chakraborty Choudhury M, George JP, Srinivas PN.   +2 more
europepmc   +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

Editorial: Molecular diagnostics for cardiovascular rare disease. [PDF]

Front Mol Biosci
Bobbio E, Caiazza M, Limongelli G, Loffredo F.   +3 more
europepmc   +1 more source

[Rare Disease Day].

Jugan geon-gang gwa jilbyeong
Rare diseases require long-term treatment and management because disease-related information is limited. Furthermore, their causes and symptoms are very complex, which make full recovery and cure very challenging. Accordingly, annual celebrations are held to strengthen patients' and families' will to overcome and improve awareness of rare diseases ...
Kim, Jimin, M, Jiwon
openaire   +2 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

Detecting comorbidity patterns in rare disease patients with machine learning. [PDF]

Front Epidemiol
Connor BM, Hill C, Bai L, McKnight AJ, Jurek-Loughrey A.   +4 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