Results 81 to 90 of about 2,881 (205)

Antisense oligonucleotide-based downregulation of the G56R pathogenic variant causing NR2E3-associated autosomal dominant retinitis pigmentosa [PDF]

, 2019
The recurrent missense variant in Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3), c.166G>A, p.(Gly56Arg) or G56R, underlies 1%–2% of cases with autosomal dominant retinitis pigmentosa (adRP), a frequent, genetically heterogeneous ...
Coppieters, Frauke, De Baere, Elfride, Lefever, Steve, Naessens, Sarah, Ruysschaert, Laurien   +4 more
core   +1 more source

X-Linked Myotubular and Centronuclear Myopathies [PDF]

Journal of Neuropathology & Experimental Neurology, 2005
Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopathy. These myopathies share similar morphologic appearances with other diseases, namely the presence of hypotrophic myofibers with prominent internalized or centrally placed nuclei.
Christopher R, Pierson, Kinga, Tomczak, Pankaj, Agrawal, Behzad, Moghadaszadeh, Alan H, Beggs   +4 more
openaire   +2 more sources

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age

European Journal of Neurology, Volume 32, Issue 4, April 2025.
ABSTRACT Background Congenital myopathies (CMyo) are a group of rare inherited muscle disorders classified to date according to myopathological features on muscle biopsy. They usually present with an early onset, with a slow or non‐progressive muscle weakness.
Michela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, Bruno Eymard, Ana Ferreiro, Edoardo Malfatti, Anthony Béhin   +10 more
wiley   +1 more source

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Orphanet Journal of Rare Diseases, 2010
Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype.
Kurul Semra, Çakmakçı Handan, Ortaç Ragıp, Yiş Uluç, Böhm Johann, Dirik Eray, Laporte Jocelyn   +6 more
doaj   +1 more source

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes? [PDF]

, 2018
PIEZO1 is a large mechanosensitive ion channel protein. Diseases associated with PIEZO1 include autosomal recessive Generalised Lymphatic Dysplasia of Fotiou (GLDF) and autosomal dominant Dehydrated Hereditary Stomatocytosis with or without ...
Albuisson, Ami, Andolfo, Bae, Bellini, Brown, Cahalan, Cha, Chin, Cox, Cummins, Del Orbe Barreto, Entezami, Fotiou, Glogowska, Grootenboer, Grootenboer, Gudipaty, Li, Lukacs, Martins, Miller, Ranade, Rees, Sabine, Syfuss, Wang, Wu, Yang, Zarychanski, Zhu   +30 more
core   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies [PDF]

, 2017
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD).
Appleton, Richard, Bertini, Enrico, Brockington, Martin, Brown, Susan, Bushby, Kate, D'Amico, Adele, Feng, Lucy, Jungbluth, Heinz, Kinali, Maria, Manzur, Adnan, Messina, Sonia, Muntoni, Francesco, Müller, Clemens R., Quinlivan, Ros, Robb, Stephanie, Roper, Helen, Rose, Michael R., Sewry, Caroline A., Straub, Volker, Swash, Michael, Treves, Susan, Zhou, Haiyan   +21 more
core  

Dynamin 2 in Charcot-Marie-Tooth Disease [PDF]

, 2012
Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton.
Takei, Kohji, Tanabe, Kenji
core   +1 more source

Gene therapy for genetic diseases: challenges and future directions

MedComm, Volume 6, Issue 2, February 2025.
The graphical abstract provides an overview of gene therapy approaches, detailing the components of the therapy and the various delivery routes. Both in vivo and ex vivo strategies facilitate the implementation of gene replacement, gene suppression, gene supplementation, and gene editing.
Beibei Qie, Jianghua Tuo, Feilong Chen, Haili Ding, Lei Lyu   +4 more
wiley   +1 more source

Rhabdomyolysis: a genetic perspective [PDF]

, 2015
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner, Edmar Zanoteli, Heinz Jungbluth, Henry Houlden, Janice L Holton, Jefferson Becker, Renata Siciliani Scalco, Robert DS Pitceathly, Ros Quinlivan   +8 more
core   +4 more sources