Terms: = Skin cancer AND LZTR1, ENSG00000099949, 8216, Q8N653, TCFL2, MGC21205, LZTR-1
37 results:
1. Mutated ZRSR2 and CUL3 accelerate clonal evolution and confer venetoclax resistance via RAS signaling pathway in blastic plasmacytoid dendritic cell neoplasm.
Fukuchi K; Koyama D; Takada M; Mori H; Hayashi K; Asano N; Sato Y; Fukatsu M; Takano M; Takahashi H; Shirado-Harada K; Kimura S; Yamamoto T; Ikezoe T
Int J Hematol; 2023 Oct; 118(4):489-493. PubMed ID: 37029861
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2. Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
Sadler KV; Bowes J; Rowlands CF; Perez-Becerril C; van der Meer CM; King AT; Rutherford SA; Pathmanaban ON; Hammerbeck-Ward C; Lloyd SKW; Freeman SR; Williams R; Hannan CJ; Lewis D; Eyre S; Evans DG; Smith MJ
Brain; 2023 Jul; 146(7):2861-2868. PubMed ID: 36546557
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3. lztr1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM; Thain E; Barnett-Tapia C; Sadeghian H; Kim RH
BMC Med Genomics; 2022 Jul; 15(1):160. PubMed ID: 35840934
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4. WP1066 induces cell death in a schwannomatosis patient-derived schwannoma cell line.
Allaf A; Victoria B; Rosario R; Misztal C; Humayun Gultekin S; Dinh CT; Fernandez-Valle C
Cold Spring Harb Mol Case Stud; 2022 Jun; 8(4):. PubMed ID: 35732500
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5. Screening of potential novel candidate genes in schwannomatosis patients.
Perez-Becerril C; Wallace AJ; Schlecht H; Bowers NL; Smith PT; Gokhale C; Eaton H; Charlton C; Robinson R; Charlton RS; Evans DG; Smith MJ
Hum Mutat; 2022 Oct; 43(10):1368-1376. PubMed ID: 35723634
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6. Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.
Wang M; Banik I; Shain AH; Yeh I; Bastian BC
Genome Med; 2022 Jun; 14(1):65. PubMed ID: 35706047
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7. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR; Messiaen L; Legius E; Pancza P; Avery RA; Blakeley JO; Babovic-Vuksanovic D; Ferner R; Fisher MJ; Friedman JM; Giovannini M; Gutmann DH; Hanemann CO; Kalamarides M; Kehrer-Sawatzki H; Korf BR; Mautner VF; MacCollin M; Papi L; Rauen KA; Riccardi V; Schorry E; Smith MJ; Stemmer-Rachamimov A; Stevenson DA; Ullrich NJ; Viskochil D; Wimmer K; Yohay K; ; Huson SM; Wolkenstein P; Evans DG
Genet Med; 2022 Sep; 24(9):1967-1977. PubMed ID: 35674741
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8. Comparison of the frequency of loss-of-function lztr1 variants between schwannomatosis patients and the general population.
Deng F; Evans DG; Smith MJ
Hum Mutat; 2022 Jul; 43(7):919-927. PubMed ID: 35391499
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9. ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.
Evans DG; Mostaccioli S; Pang D; Fadzil O Connor M; Pittara M; Champollion N; Wolkenstein P; Thomas N; Ferner RE; Kalamarides M; Peyre M; Papi L; Legius E; Becerra JL; King A; Duff C; Stivaros S; Blanco I
Eur J Hum Genet; 2022 Jul; 30(7):812-817. PubMed ID: 35361920
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10. Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.
Farshidfar F; Rhrissorrakrai K; Levovitz C; Peng C; Knight J; Bacchiocchi A; Su J; Yin M; Sznol M; Ariyan S; Clune J; Olino K; Parida L; Nikolaus J; Zhang M; Zhao S; Wang Y; Huang G; Wan M; Li X; Cao J; Yan Q; Chen X; Newman AM; Halaban R
Nat Commun; 2022 Feb; 13(1):898. PubMed ID: 35197475
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11. Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Perez-Becerril C; Evans DG; Smith MJ
Hum Mutat; 2021 Oct; 42(10):1187-1207. PubMed ID: 34273915
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12. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.
Tamura R
Int J Mol Sci; 2021 May; 22(11):. PubMed ID: 34072574
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13. Diagnostic Pathology of Tumors of Peripheral Nerve.
Belakhoua SM; Rodriguez FJ
Neurosurgery; 2021 Feb; 88(3):443-456. PubMed ID: 33588442
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14. lztr1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis.
Muthusamy K; Mrugala MM; Bendok BR; Dhamija R
Mol Genet Genomic Med; 2021 Jan; 9(1):e1560. PubMed ID: 33269527
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15. Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.
Mansouri S; Suppiah S; Mamatjan Y; Paganini I; Liu JC; Karimi S; Patil V; Nassiri F; Singh O; Sundaravadanam Y; Rath P; Sestini R; Gensini F; Agnihotri S; Blakeley J; Ostrow K; Largaespada D; Plotkin SR; Stemmer-Rachamimov A; Ferrer MM; Pugh TJ; Aldape KD; Papi L; Zadeh G
Acta Neuropathol; 2021 Jan; 141(1):101-116. PubMed ID: 33025139
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16. Sporadic vestibular schwannoma: a molecular testing summary.
Sadler KV; Bowers NL; Hartley C; Smith PT; Tobi S; Wallace AJ; King A; Lloyd SKW; Rutherford S; Pathmanaban ON; Hammerbeck-Ward C; Freeman S; Stapleton E; Taylor A; Shaw A; Halliday D; Smith MJ; Evans DG
J Med Genet; 2021 Apr; 58(4):227-233. PubMed ID: 32576656
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17. Simultaneous Detection of
Bianchessi D; Ibba MC; Saletti V; Blasa S; Langella T; Paterra R; Cagnoli GA; Melloni G; Scuvera G; Natacci F; Cesaretti C; Finocchiaro G; Eoli M
Genes (Basel); 2020 Jun; 11(6):. PubMed ID: 32575496
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18. Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.
Min BJ; Kang YK; Chung YG; Seo ME; Chang KB; Joo MW
Clin Orthop Relat Res; 2020 Nov; 478(11):2442-2450. PubMed ID: 32281771
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19. [A Case of Familial Schwannomatosis Occurring as Intraorbital Schwannoma].
Miyasaka K; Shibahara I; Hide T; Inukai M; Saegusa M; Nakano Y; Ichimura K; Takaso M; Kumabe T
No Shinkei Geka; 2020 Jan; 48(1):71-77. PubMed ID: 31983691
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20. Segmental schwannomatosis: characteristics in 12 patients.
Alaidarous A; Parfait B; Ferkal S; Cohen J; Wolkenstein P; Mazereeuw-Hautier J
Orphanet J Rare Dis; 2019 Aug; 14(1):207. PubMed ID: 31438995
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