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Showing 25 to 36 of 256 entries
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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

JAMA neurology

Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH, Silani V, Shaw CE, Landers JE, Dalgard CL, Adeleye A, Soltis AR, Alba C, Viollet C, Bacikova D, Hupalo DN, Sukumar G, Pollard HB, Wilkerson MD, Martinez EM, Abramzon Y, Ahmed S, Arepalli S, Baloh RH, Bowser R, Brady CB, Brice A, Broach J, Campbell RH, Camu W, Chia R, Cooper-Knock J, Ding J, Drepper C, Drory VE, Dunckley TL, Eicher JD, England BK, Faghri F, Feldman E, Floeter MK, Fratta P, Geiger JT, Gerhard G, Gibbs JR, Gibson SB, Glass JD, Hardy J, Harms MB, Heiman-Patterson TD, Hernandez DG, Jansson L, Kirby J, Kowall NW, Laaksovirta H, Landeck N, Landi F, Le Ber I, Lumbroso S, MacGowan DJL, Maragakis NJ, Mora G, Mouzat K, Murphy NA, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pickering-Brown S, Pioro EP, Pletnikova O, Pliner HA, Pulst SM, Ravits JM, Renton AE, Rivera A, Robberecht W, Rogaeva E, Rollinson S, Rothstein JD, Scholz SW, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Singleton AB, Smith N, Stone DJ, Tienari PJ, Troncoso JC, Valori M, Van Damme P, Van Deerlin VM, Van Den Bosch L, Zinman L, Landers JE, Chiò A, Traynor BJ, Angelocola SM, Ausiello FP, Barberis M, Bartolomei I, Battistini S, Bersano E, Bisogni G, Borghero G, Brunetti M, Cabona C, Calvo A, Canale F, Canosa A, Cantisani TA, Capasso M, Caponnetto C, Cardinali P, Carrera P, Casale F, Chiò A, Colletti T, Conforti FL, Conte A, Conti E, Corbo M, Cuccu S, Dalla Bella E, D'Errico E, DeMarco G, Dubbioso R, Ferrarese C, Ferraro PM, Filippi M, Fini N, Floris G, Fuda G, Gallone S, Gianferrari G, Giannini F, Grassano M, Greco L, Iazzolino B, Introna A, La Bella V, Lattante S, Lauria G, Liguori R, Logroscino G, Logullo FO, Lunetta C, Mandich P, Mandrioli J, Manera U, Manganelli F, Marangi G, Marinou K, Marrosu MG, Martinelli I, Messina S, Moglia C, Mora G, Mosca L, Murru MR, Origone P, Passaniti C, Petrelli C, Petrucci A, Pozzi S, Pugliatti M, Quattrini A, Ricci C, Riolo G, Riva N, Russo M, Sabatelli M, Salamone P, Salivetto M, Salvi F, Santarelli M, Sbaiz L, Sideri R, Simone I, Simonini C, Spataro R, Tanel R, Tedeschi G, Ticca A, Torriello A, Tranquilli S, Tremolizzo L, Trojsi F, Vasta R, Vacchiano V, Vita G, Volanti P, Zollino M, Zucchi E.
PMID: 34459874
JAMA Neurol. 2021 Oct 01;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598.

IMPORTANCE: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.OBJECTIVE: To identify the genetic variants associated with juvenile ALS.DESIGN, SETTING, AND PARTICIPANTS: In...

Chromatin alterations during the epididymal maturation of mouse sperm refine the paternally inherited epigenome.

Epigenetics & chromatin

Bedi YS, Roach AN, Thomas KN, Mehta NA, Golding MC.
PMID: 34991687
Epigenetics Chromatin. 2022 Jan 06;15(1):2. doi: 10.1186/s13072-021-00433-4.

BACKGROUND: Paternal lifestyle choices and male exposure history have a critical influence on the health and fitness of the next generation. Accordingly, defining the processes of germline programming is essential to resolving how the epigenetic memory of paternal experiences...

Common Ground of Medicine and Dentistry: Read in the Section on Dental and Oral Surgery, at the Forty-sixth Annual Meeting of the American Medical Association, at Baltimore, Md., May 7-10, 1895.

The Dental register

Roach J.
PMID: 33700953
Dent Regist. 1896 Apr;50(4):161-165.

No abstract available.

The Next-Generation β-Lactamase Inhibitor Taniborbactam Restores the Morphological Effects of Cefepime in KPC-Producing Escherichia coli.

Microbiology spectrum

Roach EJ, Uehara T, Daigle DM, Six DA, Khursigara CM.
PMID: 34494877
Microbiol Spectr. 2021 Oct 31;9(2):e0091821. doi: 10.1128/Spectrum.00918-21. Epub 2021 Sep 08.

Gram-negative bacteria producing carbapenemases are resistant to a variety of β-lactam antibiotics and pose a significant health risk. Given the dearth of new antibiotics, combinations of new broad-spectrum β-lactamase inhibitors (BLIs) with approved β-lactams have provided treatment options for...

Tissue engineering of the retina: from organoids to microfluidic chips.

Journal of tissue engineering

Marcos LF, Wilson SL, Roach P.
PMID: 34917332
J Tissue Eng. 2021 Dec 10;12:20417314211059876. doi: 10.1177/20417314211059876. eCollection 2021.

Despite advancements in tissue engineering, challenges remain for fabricating functional tissues that incorporate essential features including vasculature and complex cellular organisation. Monitoring of engineered tissues also raises difficulties, particularly when cell population maturity is inherent to function. Microfluidic,

CuATSM improves motor function and extends survival but is not tolerated at a high dose in SOD1.

Scientific reports

Lum JS, Brown ML, Farrawell NE, McAlary L, Ly D, Chisholm CG, Snow J, Vine KL, Karl T, Kreilaus F, McInnes LE, Nikseresht S, Donnelly PS, Crouch PJ, Yerbury JJ.
PMID: 34588483
Sci Rep. 2021 Sep 29;11(1):19392. doi: 10.1038/s41598-021-98317-w.

The synthetic copper-containing compound, CuATSM, has emerged as one of the most promising drug candidates developed for the treatment of amyotrophic lateral sclerosis (ALS). Multiple studies have reported CuATSM treatment provides therapeutic efficacy in various mouse models of ALS...

Liquid Crystalline Ordered Collagen Substrates for Applications in Tissue Engineering.

ACS biomaterials science & engineering

Price JC, Roach P, El Haj AJ.
PMID: 33465864
ACS Biomater Sci Eng. 2016 Apr 11;2(4):625-633. doi: 10.1021/acsbiomaterials.6b00030. Epub 2016 Mar 25.

This report describes methods for fabricating substrates with anisotropic order from a single solution of high concentration collagen. By exploiting the intrinsic property of collagen to behave as a cholesteric liquid crystal, we demonstrate first the production of dense...

Maternal background alters the penetrance of growth phenotypes and sex-specific placental adaptation of offspring sired by alcohol-exposed males.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

Thomas KN, Zimmel KN, Roach AN, Basel A, Mehta NA, Bedi YS, Golding MC.
PMID: 34748230
FASEB J. 2021 Dec;35(12):e22035. doi: 10.1096/fj.202101131R.

Epigenetic mechanisms of paternal inheritance are an emerging area of interest in our efforts to understand fetal alcohol spectrum disorders. In rodent models examining maternal alcohol exposures, different maternal genetic backgrounds protect or sensitize offspring to alcohol-induced teratogenesis. However,...

Next-generation Bruton's tyrosine kinase inhibitor BIIB091 selectively and potently inhibits B cell and Fc receptor signaling and downstream functions in B cells and myeloid cells.

Clinical & translational immunology

Bame E, Tang H, Burns JC, Arefayene M, Michelsen K, Ma B, Marx I, Prince R, Roach AM, Poreci U, Donaldson D, Cullen P, Casey F, Zhu J, Carlile TM, Sangurdekar D, Zhang B, Trapa P, Santoro J, Muragan P, Pellerin A, Rubino S, Gianni D, Bajrami B, Peng X, Coppell A, Riester K, Belachew S, Mehta D, Palte M, Hopkins BT, Scaramozza M, Franchimont N, Mingueneau M.
PMID: 34141433
Clin Transl Immunology. 2021 Jun 14;10(6):e1295. doi: 10.1002/cti2.1295. eCollection 2021.

CONCLUSION: Pharmacodynamic results obtained in preclinical and early clinical settings support the advancement of BIIB091 in phase 2 clinical trials.

A pilot study of prehospital antibiotics for severe sepsis.

Academic emergency medicine : official journal of the Society for Academic Emergency Medicine

Cunningham CT, Sanseverino A, Reznek M, Borges E, Beth Urhoy M, Gross K, Broach JP, O'Connor L.
PMID: 34480817
Acad Emerg Med. 2021 Sep 04; doi: 10.1111/acem.14388. Epub 2021 Sep 04.

No abstract available.

The need for early Kasai portoenterostomy: a Western Pediatric Surgery Research Consortium study.

Pediatric surgery international

Kelley-Quon LI, Shue E, Burke RV, Smith C, Kling K, Mahdi E, Ourshalimian S, Fenlon M, Dellinger M, Shew SB, Lee J, Padilla B, Inge T, Roach J, Marwan AI, Russell KW, Ignacio R, Fialkowski E, Nijagal A, Im C, Azarow KS, Ostlie DJ, Wang K.
PMID: 34854975
Pediatr Surg Int. 2021 Dec 02; doi: 10.1007/s00383-021-05047-1. Epub 2021 Dec 02.

PURPOSE: The purpose of this study was to investigate factors impacting transplant-free survival among infants with biliary atresia.METHODS: A multi-institutional, retrospective cohort study was performed at nine tertiary-level children's hospitals in the United States. Infants who underwent Kasai portoenterostomy...

Implications of Tumor Characteristics and Treatment Modality on Local Recurrence and Functional Outcomes in Children with Chest Wall Sarcoma: A Pediatric Surgical Oncology Research Collaborative Study.

Annals of surgery

Harris CJ, Helenowski I, Murphy AJ, Mansfield SA, LaQuaglia MP, Heaton TE, Cavalli M, Murphy JT, Newman E, Overmen RE, Kartal TT, Cooke-Barber J, Donaher A, Malek MM, Kalsi R, Kim ES, Zobel MJ, Goodhue CJ, Naik-Mathuria BJ, Jefferson IN, Roach JP, Mata C, Piché N, Joharifard S, Sultan S, Short SS, Meyers RL, Bleicher J, Le HD, Janek K, Bütter A, Davidson J, Aldrink JH, Richards HW, Tracy ET, Commander SJ, Fialkowski EA, Troutt M, Dasgupta R, Lautz TB.
PMID: 33156070
Ann Surg. 2020 Nov 04; doi: 10.1097/SLA.0000000000004579. Epub 2020 Nov 04.

OBJECTIVE: To determine the impact of tumor characteristics and treatment approach on (1) local recurrence, (2) scoliosis development and (3) patient-reported quality of life in children with sarcoma of the chest wall.SUMMARY BACKGROUND DATA: Children with chest wall sarcoma...

Showing 25 to 36 of 256 entries