Results 101 to 110 of about 9,291 (257)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

Análisis molecular de las ataxias espinocerebelosas para los genes 1,2,3,6,7,8 y FRDA en la población colombiana

Acta Biológica Colombiana, 2001
Las ataxias son un grupo de enfermedades neurodegenerativas que afectan el cerebelo, el tallo y los tractos espinocerebelosos. 10 genes para las ataxias espinocerebelosas (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA13, y DRPLA) han sido ...
M. L. Gómez, C. Durán, O. L. Pedraza, J. C. Prieto   +3 more
doaj  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Light‐Controlled Modulation of 15‐Lipoxygenase‐1 Regulates Intestinal Inflammatory Signaling

Angewandte Chemie, EarlyView.
The developed target‐guided strategy enables the rational design of diazo‐based photoswitchable inhibitors of 15‐lipoxygenase‐1. Distinct molecular architectures program opposite light‐dependent activity, allowing on‐demand control of enzyme inhibition.
Anastasia Louka, Eirini‐Eleni Kalaitzaki, Athanasios Panousis, Sotirios Bonoras, Charalampos Livas, George Froudakis, Ioannis Drygiannakis, Athina Damianaki, George Kolios, Vassilis Valatas, Nikolaos Eleftheriadis   +10 more
wiley   +2 more sources