Results 51 to 60 of about 293,955 (289)

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

Hearing impairment in Stickler syndrome: a systematic review [PDF]

, 2012
BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance ...
Acke, Frederic, De Leenheer, Els, Dhooge, Ingeborg, Malfait, Fransiska   +3 more
core   +2 more sources

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

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +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

Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease [PDF]

, 2016
The neurohypophysial hormone arginine vasopressin (AVP) acts by three distinct receptor subtypes: V1a, V1b, and V2. In the liver, AVP is involved in ureogenesis, glycogenolysis, neoglucogenesis and regeneration. No data exist about the presence of AVP in
Alpini, Gianfranco, Carpino, Guido, Franchitto, Antonio, Gaudio, Eugenio, Glaser, Shannon, Mancinelli, Romina, Olivero, Francesca, Onori, Paolo, Pannarale, Luigi, Sferra, Roberta, Venter, Julie, Vetuschi, Antonella   +11 more
core   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations

Frontiers in Genetics, 2022
B3GALT6 is a well-documented disease-related gene. Several B3GALT6-recessive variants have been reported to cause Ehlers–Danlos syndrome (EDS). To the best of our knowledge, no dominant B3GALT6 variant that causes human disease has been reported. In 2012,
Fang Shen, Yongjia Yang, Yu Zheng, Ming Tu, Liu Zhao, Zhenqing Luo, Yuyan Fu, Yimin Zhu, Yimin Zhu   +8 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

The impact of tolvaptan on autosomal dominant polycystic kidney disease – literature review

Studia Medyczne
This article presents current data from international literature on the impact of tolvaptan on autosomal dominant polycystic kidney disease (ADPKD). The authors have reviewed the latest clinical research literature.
Anna Gruszczyńska, Krzysztof Kowalik, Grażyna Dutkiewicz, Anna Rakoczy, Andrzej Modrzejewski   +4 more
doaj   +1 more source