Results 181 to 190 of about 36,631 (311)

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Xq24/<i>IL13RA1</i> aberrations as key drivers of female bias in primary mediastinal large B-cell lymphoma. [PDF]

Hemasphere
Marcelis L, Allsop RN, Vanden Bempt M, Debackere K, Renard F, Tuveri S, Dierickx D, Janiszewski A, Balaton BP, Vets J, Dewaele B, Michaux L, Vandenberghe P, Cools J, Vermeesch JR, Tousseyn T, Pasque V, Wlodarska I.   +17 more
europepmc   +1 more source

Global, Regional, and National Burden of Urticaria (1990–2021) and Forecasts to 2036: Systematic Analysis of the Global Burden of Disease Study 2021

Medicine Advances, EarlyView.
In our study, we conducted a comprehensive and systematic analysis of the latest global disease burden of urticaria from an epidemiological perspective, employing multiple analytical approaches. Specifically, we examined the burden of urticaria in terms of incidence, prevalence, and disability‐adjusted life years, stratified by sex, age, and region, as
Xingke Zhu, Qing Lv
wiley   +1 more source

Investigation of balanced chromosomal aberrations prevalence in healthy Turkish Cypriot couples. [PDF]

Glob Med Genet
Deryali D, Cobanogullari H, Ergoren MC.
europepmc   +1 more source

Increased expression of aromatase after focal cerebral ischemia: Relevance to neuroprotection and functional recovery

Neuroprotection, EarlyView.
Abstract Aim Aromatase is the key enzyme in the biosynthesis of 17β‐estradiol, the most potent estrogen, which has pleiotropic neuroprotective properties. Aromatase levels increase in the brain after stroke, and its gene variants increase susceptibility to stroke. This study aims to determine whether aromatase overexpression improves stroke outcome and
Lindsay Gallagher, Anna F. Dominiczak, Luis M. Garcia‐Segura, Nobuhiro Harada, J. B. Hutchison, James M. Mullin, Delyth Graham, Peter O'Shaughnessy, Hilary Victoria O. Carswell   +8 more
wiley   +1 more source

IDH1- and IDH2-mutated myeloid neoplasms: mutational pattern, clonal hierarchy, and the role in AML transformation. [PDF]

Blood Adv
Huber S, Goessweiner F, Walter W, Summerer I, Meggendorfer M, Ordemann R, Pohlkamp C, Kneisel N, Haferlach C, Kern W, Haferlach T, Delic S, Hoermann G.   +12 more
europepmc   +1 more source

Inflammation Associated With Obesity, Aging, and Amyloid Burden in Adults With Down Syndrome

Obesity, EarlyView.
ABSTRACT Objective Adults with Down syndrome (DS) often show elevated systemic inflammation, but the association with obesity, aging, and Alzheimer's disease (AD) pathology is not well understood. Methods Data were drawn from 188 nondemented adults with DS participating in the Alzheimer Biomarkers Consortium‐DS (ABC‐DS). Participants completed clinical
Victoria L. Fleming‐Batayneh, Brian C. Helsel, Lauren T. Ptomey, Benjamin L. Handen, Mark Mapstone, Melissa Petersen, Sharon J. Krinsky‐McHale, Christy L. Hom, Davneet Minhas, Weiquan Luo, Charles Laymon, Joseph H. Lee, Annie Cohen, Beau M. Ances, Adam M. Brickman, Margaret Pulsifer, H. Diana Rosas, Florencia Lai, Shahid H. Zaman, Elizabeth Head, Dana Tudorascu, Julie Price, Fredrick Schmitt, Bradley T. Christian, Ozioma Okonkwo, Sigan L. Hartley, for the Alzheimer Biomarkers Consortium‐Down Syndrome (ABC‐DS) Investigators, Beau M. Ances, Howard F. Andrews, Karen Bell, Rasmus M. Birn, Adam M. Brickman, Peter Bulova, Jeff Burns, Amrita Cheema, Kewei Chen, Bradley T. Christian, Isabel Clare, Ann D. Cohen, Eric W. Doran, Tatiana M. Foroud, Benjamin L. Handen, Jordan Harp, Sigan L. Hartley, Elizabeth Head, Denise Head, Christy Hom, Lawrence Honig, Milos D. Ikonomovic, Sterling C. Johnson, M. Ilyas Kamboh, David Keator, Julia K. Kofler, William Charles Kreisl, Sharon J. Krinsky‐McHale, Florence Lai, Patrick Lao, Charles Laymon, Joseph Hyungwoo Lee, Ira T. Lott, Victoria Lupson, Mark Mapstone, Davneet Singh Minhas, Neelesh Nadkarni, Sid O'Bryant, Deborah Pang, Melissa Petersen, Julie C. Price, Lauren Ptomey, Margaret Pulsifer, Michael S. Rafii, Herminia Diana Rosas, Frederick Schmitt, Nicole Schupf, Wayne P. Silverman, Dana L. Tudorascu, Rameshwari Tumuluru, Badri Varadarajan, Michael A. Yassa, Shahid Zaman, Fan Zhang   +80 more
wiley   +1 more source

Recent advances in the molecular genetic mechanisms and immune microenvironment of uveal melanoma. [PDF]

Melanoma Res
Yang K, Wu D.
europepmc   +1 more source

Genetic analysis of primary lung interdigitating dendritic cell sarcomas

The Journal of Pathology, EarlyView.
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov, Juliana Faria Filipe, Sylvia Eidenhammer, German Ott, Iris Halbwedl, Karl Kashofer, Helmut Popper   +6 more
wiley   +1 more source

Familial Turner Syndrome With Distinct Karyotypes in Two Cousins: Phenotypic Convergence and Genotypic Heterogeneity. [PDF]

Am J Case Rep
Zeng W, Lin S, Zheng J, Zheng Z, Li C, Yang G, Yao J, Duan S.   +7 more
europepmc   +1 more source