Results 131 to 140 of about 31,123,995 (208)

Molecular Genetic Basis of Tuberous Sclerosis Complex: From Bench to Bedside

, 2004
Tuberous sclerosis complex is an autosomal dominant disease of benign tumors occurring in multiple organ systems of the body. Either of two genes, TSC1 or TSC2, can be mutated, resulting in the tuberous sclerosis complex phenotype.
Kit-Sing Au, Michael J. Gambello, Aimee T. Williams, Hope Northrup   +3 more
core   +1 more source

Tuberous sclerosis complex: A case report

, 2016
Tuberous sclerosis complex is an unusual autosomal dominant neurocutaneous syndrome characterized by the development of benign tumors affecting different body systems affecting the brain, skin, retina, and viscera.
Rupam Sinha, Tanya Khaitan, Arpita Kabiraj, Soumyabrata Sarkar   +3 more
core   +1 more source

Naked cuticle homolog 2 controls the differentiation of osteoblasts and osteoclasts and ameliorates bone loss in ovariectomized mice

Genes and Diseases
Naked cuticle homolog 2 (NKD2) has been recognized as an antagonist of Wnt/β-catenin signaling and a tumor suppressor. The role of NKD2 in osteoblast and osteoclast differentiation and the mechanism are not fully understood.
Liying Shan, Xiaoxia Liao, Xiaoli Yang, Endong Zhu, Hairui Yuan, Jie Zhou, Xiaoxia Li, Baoli Wang   +7 more
doaj   +1 more source

Tuberous sclerosis complex [PDF]

, 2014
Tuberous sclerosis complex is a genetic disorder with a characteristic development of a benign tumorous growth in various tissues. Clinical picture is very heterogeneous, resulting in difficult diagnosis and unrecognized patients.
Alexander Jerman, Jelka Lindič
core  

Non-Neurologic Manifestations of Tuberous Sclerosis Complex

, 2004
Tuberous sclerosis complex is a heterogeneous genetic disorder affecting multiple organ systems at various points throughout the lifespan. Increasingly, neurologically asymptomatic adults are being diagnosed with tuberous sclerosis complex through renal
David Neal Franz
core   +1 more source

Mammalian target of rapamycin complex 1 (mTORC1); tuberous sclerosis complex tumor suppressors 1 and 2 (TSC1 and TSC2); unfolded protein response (UPR) [PDF]

Science-Business eXchange, 2008
openaire   +1 more source

Aggressive retinal astrocytoma associated with tuberous sclerosis

, 2012
Machiko Tomida,1 Yoshinori Mitamura,1 Takashi Katome,1 Hiroshi Eguchi,1 Takeshi Naito,1 Takayuki Harada21Department of Ophthalmology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, 2Visual Research Project, Tokyo
Eguchi H, Harada T, Katome T, Mitamura Y, Tomida M, Naito T   +5 more
core  

23 years of mTOR inhibition for tuberous sclerosis: Practical considerations. [PDF]

Neurotherapeutics
Franz DN.
europepmc   +1 more source

Delayed Diagnosis of Tuberous Sclerosis Complex Presenting as Abnormal Uterine Bleeding: A Case Report and Literature Review. [PDF]

Clin Case Rep
Bezabih KT, Belay HS, Kebede ML, Aderu AK, Gebreyes MD, Jibicho KH, Talemahu AA, Merid EF, Tukeni KN.   +8 more
europepmc   +1 more source

Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex. [PDF]

Front Genet
Zhang XF, Wang YJ, Li SX, Liu P, Hu WG.
europepmc   +1 more source