Results 81 to 90 of about 2,422 (183)

Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review

Molecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.
This study revealed three patients with familial gigantiform cementoma (FGC) carried the heterozygous mutation c.1067G>A (p.Cys356Tyr) in the ANO5 gene which was not found in 8 juvenile ossifying fibromas, 5 polyostotic fibrous dysplasia and 5 florid cemento‐osseous dysplasia.
Zheng Zhou, Ye Zhang, Lijing Zhu, Yajuan Cui, Yan Gao, Chuan‐Xiang Zhou   +5 more
wiley   +1 more source

Serum BAFF and APRIL levels in patients with IgG4-related disease and their clinical significance. [PDF]

, 2012
[Introduction]B cell-activating factor of the tumor necrosis factor family (BAFF) and a proliferation-inducing ligand (APRIL) play a crucial role in B cell development, survival, and antibody production.
Fujii, Takao, Hosono, Yuji, Kawabata, Daisuke, Kitagori, Koji, Kiyama, Kazuhiro, Mimori, Tsuneyo, Omura, Koichiro, Yoshifuji, Hajime, Yukawa, Naoichiro   +8 more
core   +2 more sources

Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy

Proceedings of the Japan Academy, Series B, 1999
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy first described by Miyoshi in 1967. MM is caused by mutations of a dysferlin gene (DYSF) at chromosome 2p13. We identified 8 novel mutations and 3 polymorphisms in the DYSF among seven unrelated Japanese families. The mutations in our MM occurred throughout the DYSF and showed no
Tsuyoshi MATSUMURA, Masashi AOKI, Atsushi NAGANO, Yukiko K. HAYASHI, Chie ASADA, Megumu OGAWA, Gaku YAMANAKA, Kanako GOTO, Masanori NAKAGAWA, Hisayoshi OKA, Ko SAHASHI, Nobuo KOUHARA, Yuko SAITO, Robert H. BROWN, Ikuya NONAKA, Kiichi ARAHATA   +15 more
openaire   +2 more sources

Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves [PDF]

, 2017
The ubiquitously expressed large GTPase Dynamin 2 (DNM2) plays a critical role in the regulation of intracellular membrane trafficking through its crucial function in membrane fission, particularly in endocytosis.
Pereira, Jorge A., Suter, Ueli, Tinelli, Elisa   +2 more
core  

Caveolins/caveolae protect adipocytes from fatty acid-mediated lipotoxicity [PDF]

, 2011
Mice and humans lacking functional caveolae are dyslipidemic and have reduced fat stores and smaller fat cells. To test the role of caveolins/caveolae in maintaining lipid stores and adipocyte integrity, we compared lipolysis in caveolin-1 (Cav1)-null ...
Aboulaich, Bastiani, Bastiani, Berger, Brasaemle, Brasaemle, Cao, Cohen, Cohen, Dietl, Ducharme, Dwianingsih, El-Jack, Gauthier, Green, Guilherme, Hansen, Hansen, Hayashi, Hill, Kandror, Kim, Le Lay, Libin Liu, Liu, Liu, McMahon, Meshulam, Michael R. Breen, Ost, Parolini, Paul F. Pilch, Pilch, Pilch, Rajab, Robert G. Parton, Shastry, Simard, Simons, Souto, Stralfors, Thorn, Todaro, Tova Meshulam, Wang, Williams, Zechner   +46 more
core   +1 more source

A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan [PDF]

, 2003
Cataloged from PDF version of article.The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood.
Atalay, R. C., Balci, B., Brockington, M., Dincel, D., Dincer, P., Gerceker, F. O., Haliloglu, G., Kale, G., Longman, C., Muntoni, F., Sue, B. B., Talim, B., Topaloglu, H., Torelli, S., Y. Yuva, Yakicier, C.   +15 more
core   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy

Yonsei Medical Journal, 2004
Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry.
Seung Hun, Oh, Tai Seung, Kim, Young Chul, Choi   +2 more
openaire   +2 more sources

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

Biomolecules
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle weakness and degeneration. They are caused by mutations in the DYSF gene, which encodes the dysferlin protein that is crucial for repairing muscle membranes. This
Saeed Anwar, Toshifumi Yokota
doaj   +1 more source

Hepatitis C virus attenuates mitochondrial lipid β-oxidation by downregulating mitochondrial trifunctional-protein expression [PDF]

, 2015
The course of hepatitis C virus (HCV) infection and disease progression involves alterations in lipid metabolism, leading to symptoms such as hypocholesterolemia and steatosis. Steatosis can be induced by multiple mechanisms, including increases in lipid
Aleem Siddiqui, Chris Peers, M. S. Diamond, Mark Harris, Michinori Kohara, Tsubasa Munakata, Yutaka Amako   +6 more
core   +1 more source