Results 161 to 170 of about 252,745 (293)

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

Tissue-specific gene dosage disruption is a key feature and pathogenic mechanism of structural variants in the human genome. [PDF]

Genome Med
Liu X, Chen Z, Jiang Q, Shen H, Liu H, Wang Z, Li Z, Wu J, Jiang H, Li X.   +9 more
europepmc   +1 more source

Gene dosage architecture across complex traits.

medRxiv : the preprint server for health sciences
Copy number variants (CNVs) have large effects on complex traits, but they are rare and remain challenging to study. As a result, our understanding of biological functions linking gene dosage to complex traits remains limited, and whether these functions sensitive to gene dosage are similar to those underlying the effects of rare single nucleotide ...
Kazem, Sayeh, Kumar, Kuldeep, Jean-Louis, Martineau, Huguet, Guillaume, Renne, Thomas, Saci, Zohra, Engchuan, Worrawat, Shanta, Omar, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Greenwood, Celia M. T., Scherer, Stephen W., Almasy, Laura, Sebat, Jonathan, Glahn, David C, Dumas, Guillaume, Jacquemont, Sébastien   +16 more
openaire   +2 more sources

Regionalisation of anterior neuroectoderm and its competence in responding to forebrain and midbrain inducing activities depend on mutual antagonism between OTX2 and GBX2

, 2001
The anterior neural ridge (ANR), and the isthmic organiser (IsO) represent two signalling centres possessing organising properties necessary for forebrain (ANR) as well as midbrain and rostral hindbrain (IsO) development. An important mediator of ANR and
Boyl, Pietro Pilo, Puelles, E, Schubert, Frank, Acampora, Dario, Lumsden, A, Simeone, A, Acampora, D, Martinez-Barbera, Juan Pedro, Schubert, F, Boyl, P P, Lumsden, Andrew, Martinez-Barbera, JP, Signore, M, Martinez-Barbera, J P, Gogoi, R, Boyl, PP, Puelles, Eduardo, Simeone, Antonio, Gogoi, Robin, Signore, Massimo   +19 more
core  

Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi, Caroline Gochanour, Seung Ho Choi, Hyunkeun Cho, Chelsea Caspell‐Garcia, Christopher Coffey, Michael Brumm, David‐Erick Lafontant, Yuge Xiao, Thomas Tropea, John Seibyl, Caroline Tanner, Charles S. Venuto, Karl Kieburtz, Lana M. Chahine, Kathleen L. Poston, Andrew Siderowf, Kenneth Marek, Tanya Simuni, The Parkinson's Progression Markers Initiative   +19 more
wiley   +1 more source

Wild-type C-Raf gene dosage and dimerization drive prostate cancer metastasis. [PDF]

iScience, 2023
Ta L, Tsai BL, Deng W, Sha J, Varuzhanyan G, Tran W, Wohlschlegel JA, Carr-Ascher JR, Witte ON.   +8 more
europepmc   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Interferon receptor gene dosage differentially regulates hypoxia-induced platelet activation and pulmonary hypertension in down syndrome. [PDF]

Front Immunol
Posey JN, Jordan M, Olsen-Dufour A, Nguyen TN, Farrell C, Lewis CV, Archambault JL, Sul C, Colon-Hidalgo D, Nozik ES, Espinosa JM, Sullivan KD, Delaney C.   +12 more
europepmc   +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

GENE DOSAGE RELATIONS FOR HAPLOIDS AND DIPLOIDS OF HABROBRACON [PDF]

Genetics, 1951
A M, CLARK, C J, MITCHELL
openaire   +2 more sources