Results 41 to 50 of about 19,235 (265)

Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy

Frontiers in Neuroscience, 2020
Giant axonal neuropathy (GAN) is a very rare autosomal recessive disorder characterized by abnormally large and dysfunctional neuronal axons. Mutations in the GAN gene have been identified as the cause of this disorder.
Xiaomin Xu, Xiaomin Xu, Xiaokai Yang, Zhongliang Su, Hai Wang, Hai Wang, Xiaoqing Li, Xiaoqing Li, Congcong Sun, Congcong Sun, Wenhuan Wang, Wenhuan Wang, Yao Chen, Chenhui Zhang, Chenhui Zhang, Hongping Zhang, Fan Jin, Jiayong Zheng, Jiayong Zheng   +18 more
doaj   +1 more source

Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report

Frontiers in Cardiovascular Medicine, 2020
Aims: Brugada syndrome (BrS) is an inherited cardiac arrhythmia with an increased risk for sudden cardiac death (SCD). About 20% of BrS cases are explained by mutations in the SCN5A gene, encoding the main cardiac sodium Nav1.5 channel. Here we present a
Aleksandra Nijak, Alain J. Labro, Hans De Wilde, Hans De Wilde, Wendy Dewals, Steve Peigneur, Jan Tytgat, Dirk Snyders, Ewa Sieliwonczyk, Eline Simons, Emeline Van Craenenbroeck, Dorien Schepers, Lut Van Laer, Johan Saenen, Bart Loeys, Bart Loeys, Maaike Alaerts   +16 more
doaj   +1 more source

Pseudoxanthoma Elasticum Is a Recessive Disease Characterized by Compound Heterozygosity [PDF]

Journal of Investigative Dermatology, 2006
Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene. Historically, PXE has been suggested to be inherited either in an autosomal dominant or autosomal recessive manner. To determine the exact mode of inheritance of PXE and to address the question of phenotypic expression in mutation carriers, we identified seven pedigrees with ...
Ringpfeil, Franziska, McGuigan, Kelly, Fuchsel, Lauren, Kozic, Heidi, Larralde, Margarita, Lebwohl, Mark, Uitto, Jouni   +6 more
openaire   +2 more sources

Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation

Frontiers in Genetics, 2018
We report the case of a 19-years-old patient who presented with a perplexing variety of symptoms which included remarkable facial features, intellectual disability, granulomatous upper lip swelling (previously diagnosed as Melkersson–Rosenthal syndrome),
Daniel Soukup, Alma Kuechler, Joachim Roesler, Leopold Pichlmaier, Maximillian Eckerland, Margarete Olivier, Florian Stehling   +6 more
doaj   +1 more source

Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis

Molecular Genetics & Genomic Medicine, 2020
Background Chorea‐acanthocytosis (ChAc; OMIM #200150) is a rare autosomal recessive condition with onset in early adulthood that is caused by mutations in the vacuolar protein sorting 13A (VPS13A) gene encoding chorein.
Derek Spieler, Antonio Velayos‐Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta‐Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek   +8 more
doaj   +1 more source

Clinical challenges in interpreting multiple pathogenic mutations in single patients

Hereditary Cancer in Clinical Practice, 2021
Background In the past two decades, genetic testing for cancer risk assessment has entered mainstream clinical practice due to the availability of low-cost panels of multiple cancer-associated genes.
Christa Slaught, Elizabeth G. Berry, Lindsay Bacik, Alison H. Skalet, George Anadiotis, Therese Tuohy, Sancy A. Leachman   +6 more
doaj   +1 more source

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report

BMC Musculoskeletal Disorders, 2021
Background Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in the CAPN3 gene
Evelina Siavrienė, Gunda Petraitytė, Birutė Burnytė, Aušra Morkūnienė, Violeta Mikštienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė   +8 more
doaj   +1 more source

Osteogenesis Imperfecta Due to Compound Heterozygosity for theLEPRE1Gene [PDF]

Fetal and Pediatric Pathology, 2013
Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified.
Moul, Adrienne, Alladin, Amanda, Navarrete, Cristina, Abdenour, George, Rodriguez, Maria M.   +4 more
openaire   +2 more sources

Mechanisms of parasite‐mediated disruption of brain vessels

FEBS Letters, EarlyView.
Parasites can affect the blood vessels of the brain, often causing serious neurological problems. This review explains how different parasites interact with and disrupt these vessels, what this means for brain health, and why these processes matter. Understanding these mechanisms may help us develop better ways to prevent or treat brain infections in ...
Leonor Loira, Sílvia Arroz‐Madeira, Cláudio A. Franco, Sara Silva Pereira   +3 more
wiley   +1 more source

Aggressive prostate cancer is associated with pericyte dysfunction

Molecular Oncology, EarlyView.
Tumor‐produced TGF‐β drives pericyte dysfunction in prostate cancer. This dysfunction is characterized by downregulation of some canonical pericyte markers (i.e., DES, CSPG4, and ACTA2) while maintaining the expression of others (i.e., PDGFRB, NOTCH3, and RGS5).
Anabel Martinez‐Romero, Ane Martinez‐Larrinaga, Joaquim Grego‐Bessa, Saioa Garcia‐Longarte, Hielke van Splunder, Ianire Astobiza, Amaia Ercilla, Laura Bozal‐Basterra, Isabel Mendizabal, Pilar Villacampa, Arkaitz Carracedo, Mariona Graupera   +11 more
wiley   +1 more source