Results 21 to 30 of about 178,919 (265)

SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa

Frontiers in Medicine, 2021
The small nuclear ribonucleoprotein 200 kDa (SNRNP200) gene plays a key role in the maturation of pre-message RNA (pre-mRNA) splicing with the indication for the etiology of retinitis pigmentosa (RP).
Tao Zhang, Tao Zhang, Jingshan Bai, Jingshan Bai, Xinyi Zhang, Xinyi Zhang, Xiaowei Zheng, Xiaowei Zheng, Nan Lu, Zhongyin Liang, Ling Lin, Ling Lin, Yongsong Chen, Yongsong Chen   +13 more
doaj   +1 more source

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Annals of Clinical and Translational Neurology, 2023
SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L‐serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly ...
Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike‐Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN), Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis   +33 more
doaj   +1 more source

The Autosomal Dominant Dystonias

Brain Pathology, 1992
Dystonia is a term used to describe a specific set of abnormal movements that can occur as a symptom of a variety of neurologic disorders, but also as a disease entity in its own right. This review focuses on the primary dystonias and delineates the genetic contribution to these disorders.
T, Gasser, S, Fahn, X O, Breakefield
openaire   +2 more sources

Arteriovenous Malformation of Lower Lip in Familial Cerebral Cavernous Malformation Syndrome: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Familial Cerebral Cavernous Malformations (FCCM) is a genetic condition marked by the presence of numerous vascular abnormalities within the brain and spinal cord.
Riya Anand Goyal, Nitin Dharampal Bhola, Sanjana Wadewale, Rajanikanth Kambala   +3 more
doaj   +1 more source

Autosomal dominant Parkinson's disease [PDF]

Parkinsonism & Related Disorders, 2012
Over the past two decades the understanding and classification of Parkinson's disease (PD) has been revolutionized by genetic research. Currently, sixteen PARK loci have been identified with autosomal dominant genes such as SNCA, and LRRK2, and autosomal recessive genes such as PRKN, DJ-1, and PINK1.
Christina, Sundal, Shinsuke, Fujioka, Ryan J, Uitti, Zbigniew K, Wszolek   +3 more
openaire   +4 more sources

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Genetics of Autosomal Dominant Partial Epilepsy with Auditory Features (ADPEAF)

Pediatric Neurology Briefs, 2008
Data from 24 previously published ADPEAF families with mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) were analyzed, in a study at Columbia University, New York.
J Gordon Millichap
doaj   +1 more source

Leucine‐rich glioma inactivated 1 (LGI1) is a ganglioside‐binding protein

FEBS Letters, EarlyView.
Neuronal hyperexcitability associated with a decrease/absence of the extracellular protein LGI1 has been suggested to be primarily due to the downregulation of Kv1 channel expression. The molecular mechanisms underlying this decrease have not yet been elucidated.
Kévin Debreux, Christian Lévêque, Fodil Azzaz, Marion Sangiardi, Sarosh R Irani, Michael Seagar, Jacques Fantini, Oussama El Far   +7 more
wiley   +1 more source

Guttate hypopigmentation in Darier disease: A rare presentation

Pigment International
Darier disease (DD) is an autosomal dominant genodermatosis attributed to ATP2A2 gene mutation which encodes the sarco/endoplasmic reticulum Ca2+ATPase isoform 2.
Aradhana Rout, Ashish Kumar Pandey, Karthi Kishore   +2 more
doaj   +1 more source

Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiencyCoccidioidomycosis and autosomal dominant STAT1 deficiency [PDF]

Journal of Human Immunity
Autosomal dominant STAT1 deficiency is a monogenic defect that increases susceptibility to coccidioidomycosis in humans.
Aidé Tamara Staines-Boone, Miyuki Tsumura, STAT1 Consortium, Jacinta Bustamante, Satoshi Okada, Lizbeth Blancas-Galicia   +5 more
doaj   +1 more source