Results 51 to 60 of about 207,744 (307)

CRISPR/Cas therapeutic strategies for autosomal dominant disorders

The Journal of Clinical Investigation, 2022
Autosomal dominant disorders present unique challenges, as therapeutics must often distinguish between healthy and diseased alleles while maintaining high efficiency, specificity, and safety.
Salvatore Marco Caruso, Peter M.J. Quinn, Bruna Lopes da Costa, Stephen H. Tsang   +3 more
doaj   +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

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Autosomal dominant pseudoxanthoma elasticum [PDF]

Journal of Medical Genetics, 1974
Two families are described, each with a unique clinical variant of pseudoxanthoma elasticum (PXE) inherited in autosomal dominant fashion. Dominant type I PXE is characterized by a classical flexurally distributed rash, severe and frequent angina of effort, intermittent claudication and hypertension, and a very severe choroidoretinitis, often ...
openaire   +2 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Scientific Reports
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene.
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen   +17 more
doaj   +1 more source

Familial Hypokalemic Periodic Paralysis: A Case Report [PDF]

Düzce Tıp Fakültesi Dergisi, 2010
Familial hypokalemic periodic paralysis is an autosomal dominantly inherited congenital diseasecharacterized by intermittent attacks of muscle weakness lasting for a few hours to a few daysand occurring a few times a year or once a day.
Semih KORKUT, Hayati KANDİŞ, Harun GÜNEŞ, Esin KORKUT
doaj  

Autosomal dominant polycystic kidney disease in Colombia

BMC Nephrology, 2023
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis.
Jessica T. Camargo, Camilo A González, Lina Herrera, Nancy Yomayusa-González, Milciades Ibañez, Ana M. Valbuena-García, Lizbeth Acuña-Merchán   +6 more
doaj   +1 more source

Polycystic Kidney Disease–Related Disease Burden in Adolescents With Autosomal Dominant Polycystic Kidney Disease: An International Qualitative StudyPlain-Language Summary

Kidney Medicine, 2022
Rationale & Objective: Little is known about symptoms and disease impacts in adolescents with autosomal dominant polycystic kidney disease (ADPKD).
Dorothee Oberdhan, Franz Schaefer, Jason C. Cole, Andrew C. Palsgrove, Ann Dandurand, Lisa Guay-Woodford   +5 more
doaj   +1 more source

A Computational Model of the LGI1 Protein Suggests a Common Binding Site for ADAM Proteins [PDF]

, 2011
Mutations of human leucine-rich glioma inactivated (LGI1) gene encoding the epitempin protein cause autosomal dominant temporal lateral epilepsy (ADTLE), a rare familial partial epileptic syndrome.
Leonardi, Emanuela, Tosatto, Silvio C. E., Giorgia Busolin, Simonetta Andreazza, Busolin, Giorgia, Tosatto, Silvio C E, Emanuela Leonardi, Carlo Nobile, Silvio C E Tosatto, TOSATTO, SILVIO, Busolin Giorgia, Silvio C. E. Tosatto, Tosatto Silvio C. E., Vanin, Stefano, Vanin Stefano, NOBILE C, Langowski, Jörg, Stefano Vanin, Andreazza Simonetta, Andreazza, Simonetta, Nobile, Carlo, ANDREAZZA A, Leonardi Emanuela, Nobile Carlo   +23 more
core   +1 more source