Results 91 to 100 of about 9,368,956 (337)

Mitochondrial Dynamics in Mitochondrial Diseases

Diseases, 2016
Mitochondria are very versatile organelles in continuous fusion and fission processes in response to various cellular signals. Mitochondrial dynamics, including mitochondrial fission/fusion, movements and turnover, are essential for the mitochondrial ...
J. M. Suárez-Rivero, Marina Villanueva-Paz, P. de la Cruz-Ojeda, Mario de la Mata, D. Cotán, M. Oropesa‐Ávila, I. de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, J. Sánchez-Alcázar   +9 more
semanticscholar   +1 more source

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold, Mikko Valtanen, Kari Auranen, Stina Syrjänen, Sirkku Peltonen, Juha Peltonen, Roope A. Kallionpää   +6 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Osteoimmunology in Periodontitis and Orthodontic Tooth Movement

Current Osteoporosis Reports, 2023
Bushra Alghamdi, H. H. Jeon, J. Ni, D. Qiu, Alyssia Liu, Julie J Hong, Mamoon Ali, Albert Wang, Michael Troka, D. Graves   +9 more
semanticscholar   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

Ibrain, EarlyView., 2023
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Leucine‐rich repeats and sterility α mutations in motif 1 (LRSAM1) has been proven to be involved in the pathogenesis of ALS.
Ji‐Yao Qin, Zun‐Lin Zhou, Yuan‐Qing Zhou, Ya Chen, Xiao‐Yan Yang, Hai‐Qing Zhang, Zu‐Cai Xu   +6 more
wiley   +1 more source

Familial jaw cysts in Charcot-Marie-Tooth disease. [PDF]

, 1969
Michael Swift, Sidney L. Horowitz
openalex   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Neuroarthropathy in Charcot-Marie-Tooth disease. [PDF]

, 1969
F E Bruckner, B. E. Kendall
openalex   +1 more source

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset

Journal of Neuromuscular Diseases, 2019
Charcot-Marie-Tooth disease is a phenotypically and genetically heterogeneous group of disorders affecting both motor and sensory neurons. Exome sequencing has driven discovery of genes responsible for Charcot-Marie-Tooth disease with more than 70 genes ...
Meredith K. Gillespie, H. McMillan, K. Kernohan, I. Pena, Rebecca Meyer-Schuman, A. Antonellis, K. Boycott   +6 more
semanticscholar   +1 more source