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[Tuberous sclerosis complex-associated multifocal micronodular pneumocyte hyper…

Zhang(PY),Wu(CY),Wu(W),Xie(HK),Hou(LK),Huang… Zhonghua Bing Li Xue Za Zhi 2026-06-08

...TSC2 genes. Methods: A retrospective analysis was conducted on 8 MMPH cases diagnosed at Shanghai Pulmonary Hospital Aff...

Genotypic and phenotypic features of 23 Egyptian patients with tuberous scleros…

Othman(AA),Sadek(AA),Aladawy(MA),Aziz(SP),Se… BMC Pediatr 2026-06-10

Tuberous sclerosis complex (TSC) is a multisystem disease caused by pathogenic variants in TSC1 or TSC2 genes. Although ...

Exploratory Analysis of Autophagy-related Genes and Immune Infiltration in Huma…

Liu(J),Wang(Y),Sheng(D),Li(X),Yazgulyyeva(B)… Mol Neurobiol 2026-07-14

...TSC2 as hub genes among them. Exploratory assessment in an independent dataset partially replicated the expression patte...

Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year re…

Calonge(Q),Hanin(A),Dade(M),Bailly(L),Gourfi… J Neurol 2026-07-16

...TSC2. Adult-onset epilepsy and mosaic cases were described. Of 180 adults with TSC, 148 were included. At last follow-up...

Long-read, whole-genome sequencing and chemotherapy response of two patient-der…

Wendt(JR),Adams(KM),Moreno(R),Hossan(MS),Str… bioRxiv 2026-07-10

...TSC2, NCOR2, and CTNNA2 that are predicted to be likely pathogenic. The spectrum of mutations, particularly the coincide...

Multifocal Low-Grade Oncocytic Tumor of the Kidney Associated With Germline TSC…

Putra(I),Vashisht(T),Ordobazari(A),Vosoughi(… Case Rep Pathol None

...TSC2, or MTOR. We describe a 72-year-old male with a history of pancreatic neuroendocrine tumor, gastrointestinal stroma...

Genomic insights into uterine leiomyosarcoma: Unraveling KMT2D, CREBBP, NOTCH2,…

Dos Anjos(LG),da Costa(LT),Bizinelli(D),Mira… Clinics (Sao Paulo) 2026-07-17

...TSC2, GNAS), validating mutations, examining gene methylation, and correlating with clinical features. Thirty samples, i...

Pathogenic Mutations in the Tumor Microenvironment Drive Tumor Progression in D…

Aggarwal(V),Srinivasan(R),Bal(A),Malhotra(P)… Cancers (Basel) 2026-05-22

...TSC2, EZH2, EP300, KMT2D, and B2M, with subtype-specific distribution. Pathway enrichment analysis implicated role of No...

In vitro study of TSC1 deficiency in preadipocytes: insights into development a…

Friedrich(JE),Hentschel(J),Richter(S),Kiep(H… Orphanet J Rare Dis 2026-06-12

...TSC2 genes, characterized by overgrowth and lesions in multiple organs. While renal angiomyolipomas are commonly seen, l...

ASPSCR1: TFE3 Fusion-Positive Epithelioid Angiomyolipoma/PEComa Lacking Melanoc…

Kondo(Y),Nagashima(Y),Zennami(K),Sato(M),Sum… IJU Case Rep 2026-07-00

...TSC2 alterations, and a small subset features TFE3 rearrangements, mutually exclusive of TSC mutations. Recently, "periv...

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