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Latest Publications and Research on Farber disease

Lancet Oncol.      

Glioma patient-reported outcome assessment in clinical care and research: a Response Assessment in Neuro-Oncology collaborative report.

Armstrong TS, Dirven L, Arons D, Bates A, Chang SM, Coens C, Espinasse C, Gilbert MR, Jenkinson D, Kluetz P, Mendoza T, Rubinstein L, Sul J, Weller M, Wen PY, van den Bent MJ, Taphoorn MJB

Clinical trials of treatments for high-grade gliomas have traditionally relied on measures of response or time-dependent metrics; however, these endpo ... Read More

Source: PubMed
Science      

Therapeutic targeting of preleukemia cells in a mouse model of NPM1 mutant acute myeloid leukemia.

Uckelmann HJ, Kim SM, Wong EM, Hatton C, Giovinazzo H, Gadrey JY, Krivtsov AV, Rücker FG, Döhner K, McGeehan GM, Levine RL, Bullinger L, Vassiliou GS, Armstrong SA

The initiating mutations that contribute to cancer development are sometimes present in premalignant cells. Whether therapies targeting these mutation ... Read More

Source: PubMed
Science   2020 Jan 30   

Structural basis of second-generation HIV integrase inhibitor action and viral resistance.

Cook NJ, Li W, Berta D, Badaoui M, Ballandras-Colas A, Nans A, Kotecha A, Rosta E, Engelman AN, Cherepanov P

Despite worldwide prescription, the mechanistic basis for superiority of second-generation HIV integrase (IN) strand transfer inhibitors (INSTIs) is p ... Read More

Source: PubMed
Eur. Urol.   2020 Jan 27   

Management of Patients with Advanced Prostate Cancer: Report of the Advanced Prostate Cancer Consensus Conference 2019.

Gillessen S, Attard G, Beer TM, Beltran H, Bjartell A, Bossi A, Briganti A, Bristow RG, Chi KN, Clarke N, Davis ID, de Bono J, Drake CG, Duran I, Eeles R, Efstathiou E, Evans CP, Fanti S, Feng FY, Fizazi K, Frydenberg M, Gleave M, Halabi S, Heidenreich A, Heinrich D, Higano CTS, Hofman MS, Hussain M, James N, Kanesvaran R, Kantoff P, Khauli RB, Leibowitz R, Logothetis C, Maluf F, Millman R, Morgans AK, Morris MJ, Mottet N, Mrabti H, Murphy DG, Murthy V, Oh WK, Ost P, O'Sullivan JM, Padhani AR, Parker C, Poon DMC, Pritchard CC, Reiter RE, Roach M, Rubin M, Ryan CJ, Saad F, Sade JP, Sartor O, Scher HI, Shore N, Small E, Smith M, Soule H, Sternberg CN, Steuber T, Suzuki H, Sweeney C, Sydes MR, Taplin ME, Tombal B, Türkeri L, van Oort I, Zapatero A, Omlin A

Innovations in treatments, imaging, and molecular characterisation in advanced prostate cancer have improved outcomes, but there are still many aspect ... Read More

Source: PubMed
Genome Med      

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP

For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by e ... Read More

Source: PubMed
Lancet Oncol.      

Glioma patient-reported outcome assessment in clinical care and research: a Response Assessment in Neuro-Oncology collaborative report.

Armstrong TS, Dirven L, Arons D, Bates A, Chang SM, Coens C, Espinasse C, Gilbert MR, Jenkinson D, Kluetz P, Mendoza T, Rubinstein L, Sul J, Weller M, Wen PY, van den Bent MJ, Taphoorn MJB

Clinical trials of treatments for high-grade gliomas have traditionally relied on measures of response or time-dependent metrics; however, these endpo ... Read More

Source: PubMed
Science      

Therapeutic targeting of preleukemia cells in a mouse model of NPM1 mutant acute myeloid leukemia.

Uckelmann HJ, Kim SM, Wong EM, Hatton C, Giovinazzo H, Gadrey JY, Krivtsov AV, Rücker FG, Döhner K, McGeehan GM, Levine RL, Bullinger L, Vassiliou GS, Armstrong SA

The initiating mutations that contribute to cancer development are sometimes present in premalignant cells. Whether therapies targeting these mutation ... Read More

Source: PubMed
Science   2020 Jan 30   

Structural basis of second-generation HIV integrase inhibitor action and viral resistance.

Cook NJ, Li W, Berta D, Badaoui M, Ballandras-Colas A, Nans A, Kotecha A, Rosta E, Engelman AN, Cherepanov P

Despite worldwide prescription, the mechanistic basis for superiority of second-generation HIV integrase (IN) strand transfer inhibitors (INSTIs) is p ... Read More

Source: PubMed
Eur. Urol.   2020 Jan 27   

Management of Patients with Advanced Prostate Cancer: Report of the Advanced Prostate Cancer Consensus Conference 2019.

Gillessen S, Attard G, Beer TM, Beltran H, Bjartell A, Bossi A, Briganti A, Bristow RG, Chi KN, Clarke N, Davis ID, de Bono J, Drake CG, Duran I, Eeles R, Efstathiou E, Evans CP, Fanti S, Feng FY, Fizazi K, Frydenberg M, Gleave M, Halabi S, Heidenreich A, Heinrich D, Higano CTS, Hofman MS, Hussain M, James N, Kanesvaran R, Kantoff P, Khauli RB, Leibowitz R, Logothetis C, Maluf F, Millman R, Morgans AK, Morris MJ, Mottet N, Mrabti H, Murphy DG, Murthy V, Oh WK, Ost P, O'Sullivan JM, Padhani AR, Parker C, Poon DMC, Pritchard CC, Reiter RE, Roach M, Rubin M, Ryan CJ, Saad F, Sade JP, Sartor O, Scher HI, Shore N, Small E, Smith M, Soule H, Sternberg CN, Steuber T, Suzuki H, Sweeney C, Sydes MR, Taplin ME, Tombal B, Türkeri L, van Oort I, Zapatero A, Omlin A

Innovations in treatments, imaging, and molecular characterisation in advanced prostate cancer have improved outcomes, but there are still many aspect ... Read More

Source: PubMed
Genome Med      

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP

For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by e ... Read More

Source: PubMed
Lancet Oncol.      

Glioma patient-reported outcome assessment in clinical care and research: a Response Assessment in Neuro-Oncology collaborative report.

Armstrong TS, Dirven L, Arons D, Bates A, Chang SM, Coens C, Espinasse C, Gilbert MR, Jenkinson D, Kluetz P, Mendoza T, Rubinstein L, Sul J, Weller M, Wen PY, van den Bent MJ, Taphoorn MJB

Clinical trials of treatments for high-grade gliomas have traditionally relied on measures of response or time-dependent metrics; however, these endpo ... Read More

Source: PubMed
Science      

Therapeutic targeting of preleukemia cells in a mouse model of NPM1 mutant acute myeloid leukemia.

Uckelmann HJ, Kim SM, Wong EM, Hatton C, Giovinazzo H, Gadrey JY, Krivtsov AV, Rücker FG, Döhner K, McGeehan GM, Levine RL, Bullinger L, Vassiliou GS, Armstrong SA

The initiating mutations that contribute to cancer development are sometimes present in premalignant cells. Whether therapies targeting these mutation ... Read More

Source: PubMed
Science   2020 Jan 30   

Structural basis of second-generation HIV integrase inhibitor action and viral resistance.

Cook NJ, Li W, Berta D, Badaoui M, Ballandras-Colas A, Nans A, Kotecha A, Rosta E, Engelman AN, Cherepanov P

Despite worldwide prescription, the mechanistic basis for superiority of second-generation HIV integrase (IN) strand transfer inhibitors (INSTIs) is p ... Read More

Source: PubMed
Eur. Urol.   2020 Jan 27   

Management of Patients with Advanced Prostate Cancer: Report of the Advanced Prostate Cancer Consensus Conference 2019.

Gillessen S, Attard G, Beer TM, Beltran H, Bjartell A, Bossi A, Briganti A, Bristow RG, Chi KN, Clarke N, Davis ID, de Bono J, Drake CG, Duran I, Eeles R, Efstathiou E, Evans CP, Fanti S, Feng FY, Fizazi K, Frydenberg M, Gleave M, Halabi S, Heidenreich A, Heinrich D, Higano CTS, Hofman MS, Hussain M, James N, Kanesvaran R, Kantoff P, Khauli RB, Leibowitz R, Logothetis C, Maluf F, Millman R, Morgans AK, Morris MJ, Mottet N, Mrabti H, Murphy DG, Murthy V, Oh WK, Ost P, O'Sullivan JM, Padhani AR, Parker C, Poon DMC, Pritchard CC, Reiter RE, Roach M, Rubin M, Ryan CJ, Saad F, Sade JP, Sartor O, Scher HI, Shore N, Small E, Smith M, Soule H, Sternberg CN, Steuber T, Suzuki H, Sweeney C, Sydes MR, Taplin ME, Tombal B, Türkeri L, van Oort I, Zapatero A, Omlin A

Innovations in treatments, imaging, and molecular characterisation in advanced prostate cancer have improved outcomes, but there are still many aspect ... Read More

Source: PubMed
Genome Med      

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S, Weile J, Verby M, Wu Y, Wang Y, Cote AG, Fotiadou I, Kitaygorodsky J, Vidal M, Rine J, Ješina P, Kožich V, Roth FP

For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by e ... Read More

Source: PubMed

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