Results 31 to 40 of about 207,744 (307)

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

Hypertensive Emergency In UMOD-Related Autosomal Dominant Tubulointerstitial Kidney Disease [PDF]

, 2022
Hypertensive emergency is characterized by an acute elevation in blood pressure with evidence of impending or progressive acute target organ damage. Management relies mainly on intravenous medications guided by the type of target-organ damage, but there ...
Sunil Sapru, Talha Chaudhry
core  

Fibrillar aggregations of pathogenic pro-vasopressin mutants [PDF]

, 2009
Diabetes insipidus is a disregulation of water homeostasis characterized by large fluid turnover in the kidney. Water homeostasis is regulated by the hormone vasopressin by increasing reapsorption of water in the renal collecting duct. Autosomal dominant
Birk, Julia
core   +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

Degradation of vasopressin precursor and pathogenic mutants in diabetes insipidus [PDF]

, 2007
The nonapeptide hormone, arginine vasopressin, plays a decisive role in the regulation of fluid balance by reducing free water clearance through reabsorption of water in the renal collecting ducts.
Friberg, Michael
core   +1 more source

Marfan Syndrome and Autosomal Dominant Polycystic Kidney Disease: A Case of Rare Co-occurrence or Coincidence? [PDF]

, 2022
Background: Marfan syndrome (MFS) and autosomal dominant kidney disease (ADPKD) are two separate genetic disorders. The author describes the case of a young male with ADPKD who incidentally had Marfan-like features. A literature review was carried out to
Arjun Sekar
core   +1 more source

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

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

, 2003
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.
Basak, A, Hilal, L., Cherif Chefchaouni, M., Slingsby, Christine, Hajaji, Y, Basak, Ajit K., Arbogast, L., Abitbol, Marc, M, Nandrot, E., Cherif-Chefchaouni, M, Benazzouz, B, Boutayeb, S, Boutayeb, S., Berraho, A., Hilal, Latifa, Abitbol, M., Arbogast, Laurence, Hajaji, Y., Gribouval, O., Benazzouz, B., Abitbol, Marc,, Nandrot, Emeline, Gribouval, Olivier   +22 more
core   +1 more source

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

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