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Items: 1 to 20 of 10842

1.

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.

Torraco A, Stehling O, Stümpfig C, Rösser R, De Rasmo D, Fiermonte G, Verrigni D, Rizza T, Vozza A, Di Nottia M, Diodato D, Martinelli D, Piemonte F, Dionisi-Vici C, Bertini E, Lill R, Carrozzo R.

Hum Mol Genet. 2018 Aug 2. doi: 10.1093/hmg/ddy273. [Epub ahead of print] No abstract available.

PMID:
30113620
2.

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G.

Hum Mol Genet. 2018 Jun 22. doi: 10.1093/hmg/ddy241. [Epub ahead of print]

PMID:
30107592
3.

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Jacquemont S, Pacini L, Jønch AE, Cencelli G, Rozenberg I, He Y, D'Andrea L, Pedini G, Eldeeb M, Willemsen R, Gasparini F, Tassone F, Hagerman R, Gomez-Mancilla B, Bagni C.

Hum Mol Genet. 2018 Aug 9. doi: 10.1093/hmg/ddy291. [Epub ahead of print] No abstract available.

PMID:
30107584
4.

Fragile X mental retardation protein modulates the stability of its m6A-marked messenger RNA targets.

Zhang F, Kang Y, Wang M, Li Y, Xu T, Yang W, Song H, Wu H, Shu Q, Jin P.

Hum Mol Genet. 2018 Aug 9. doi: 10.1093/hmg/ddy292. [Epub ahead of print]

PMID:
30107516
5.

A Patient-derived iPSC Model Revealed Oxidative Stress Increases Facioscapulohumeral Muscular Dystrophy-causative DUX4.

Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H.

Hum Mol Genet. 2018 Aug 9. doi: 10.1093/hmg/ddy293. [Epub ahead of print]

PMID:
30107443
6.

SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition.

Karaky M, Fedetz M, Potenciano V, Andrés-León E, Codina AE, Barrionuevo C, Alcina A, Matesanz F.

Hum Mol Genet. 2018 Aug 8. doi: 10.1093/hmg/ddy284. [Epub ahead of print]

PMID:
30102396
7.

Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs.

Pólvora-Brandão D, Joaquim M, Godinho I, Aprile D, Álvaro AR, Onofre I, Raposo AC, Almeida LP, Duarte ST, Rocha ST.

Hum Mol Genet. 2018 Aug 8. doi: 10.1093/hmg/ddy274. [Epub ahead of print]

PMID:
30102380
8.

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.

Whitley B, Lam C, Cui H, Haude K, Bai R, Escobar L, Hamilton A, Brady L, Tarnopolsky MA, Dengle L, Picker J, Lincoln S, Lackner LL, Glass IA, Hoppins S.

Hum Mol Genet. 2018 Aug 2. doi: 10.1093/hmg/ddy287. [Epub ahead of print]

PMID:
30085106
9.

Targeting RAGE as a potential therapeutic approach to Duchenne muscular dystrophy.

Sagheddu R, Chiappalupi S, Salvadori L, Riuzzi F, Donato R, Sorci G.

Hum Mol Genet. 2018 Aug 2. doi: 10.1093/hmg/ddy288. [Epub ahead of print]

PMID:
30085099
10.

Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria.

Serrano-Mendioroz I, Sampedro A, Serna N, Salamanca RE, Sanz-Parra A, Corrales F, Berraondo P, Millet O, Fontanellas A.

Hum Mol Genet. 2018 Aug 1. doi: 10.1093/hmg/ddy283. [Epub ahead of print]

PMID:
30085095
11.

Genetic fine mapping of Systemic Lupus Erythematosus MHC associations in Europeans and African Americans.

Hanscombe KB, Morris DL, Noble JA, Dilthey AT, Tombleson P, Kaufman KM, Comeau M, Langefeld CD, Alarcon-Riquelme ME, Gaffney PM, Jacob CO, Sivils KL, Tsao BP, Alarcon GS, Brown EE, Croker J, Edberg J, Gilkeson G, James JA, Kamen DL, Kelly JA, McCune J, Merrill JT, Petri M, Ramsey-Goldman R, Reveille JD, Salmon JE, Scofield H, Utset T, Wallace DJ, Weisman MH, Kimberly RP, Harley JB, Lewis CM, Criswell LA, Vyse TJ.

Hum Mol Genet. 2018 Jul 31. doi: 10.1093/hmg/ddy280. [Epub ahead of print]

PMID:
30085094
12.

Whole exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.

Zhang L, Sun Z, Zhao P, Huang L, Xu M, Yang Y, Chen X, Lu F, Zhang X, Wang H, Zhang S, Liu W, Jiang Z, Ma S, Chen R, Zhao C, Yang Z, Sui R, Zhu X.

Hum Mol Genet. 2018 Jul 31. doi: 10.1093/hmg/ddy281. [Epub ahead of print]

PMID:
30085091
13.

A putative human infertility allele of the meiotic recombinase DMC1 does not affect fertility in mice.

Tran TN, Schimenti JC.

Hum Mol Genet. 2018 Aug 1. doi: 10.1093/hmg/ddy286. [Epub ahead of print]

PMID:
30085085
14.

CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10.

Huang X, Wu BP, Nguyen D, Liu YT, Marani M, Hench J, Bénit P, Kozjak-Pavlovic V, Rustin P, Frank S, Narendra DP.

Hum Mol Genet. 2018 Jul 31. doi: 10.1093/hmg/ddy270. [Epub ahead of print]

PMID:
30084972
15.

Amino acid position 37 of HLA-DRβ1 affects susceptibility to Crohn's disease in Asians.

Han B, Akiyama M, Kim KK, Oh H, Choi H, Lee CH, Jung S, Lee HS, Kim EE, Cook S, Haritunians T, Yamazaki K, Park SH, Ye BD, McGovern DPB, Esaki M, Kawaguchi T, Khor SS, Taylor KD, Rotter JI, Suzuki Y, Matsui T, Motoya S, Bang SY, Kim TH, Momozawa Y, Kamatani Y, Tokunaga K, Kubo M, Okada Y, Yang SK, Song K.

Hum Mol Genet. 2018 Jul 31. doi: 10.1093/hmg/ddy285. [Epub ahead of print]

PMID:
30084967
16.

Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retina.

Assawachananont J, Kim SY, Kaya KD, Fariss R, Roger JE, Swaroop A.

Hum Mol Genet. 2018 Jul 31. doi: 10.1093/hmg/ddy272. [Epub ahead of print]

PMID:
30084954
17.

Recent advances in developing therapeutics for cystic fibrosis.

Strug LJ, Stephenson AL, Panjwani N, Harris A.

Hum Mol Genet. 2018 Aug 1;27(R2):R173-R186. doi: 10.1093/hmg/ddy188.

PMID:
30060192
18.

Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.

Qiao D, Ameli A, Prokopenko D, Chen H, Kho AT, Parker MM, Morrow J, Hobbs BD, Liu Y, Beaty TH, Crapo JD, Barnes KC, Nickerson DA, Bamshad M, Hersh CP, Lomas DA, Agusti A, Make BJ, Calverley PMA, Donner CF, Wouters EF, Vestbo J, Paré PD, Levy RD, Rennard SI, Tal-Singer R, Spitz MR, Sharma A, Ruczinski I, Lange C, Silverman EK, Cho MH; NHLBI Exome Sequencing Project, University of Washington Center for Mendelian Genomics, Lung GO, COPDGene Investigators.

Hum Mol Genet. 2018 Jul 27. doi: 10.1093/hmg/ddy269. [Epub ahead of print]

PMID:
30060175
19.

ADAMTS10-mediated tissue disruption in Weill-Marchesani Syndrome.

Mularczyk EJ, Singh M, Godwin ARF, Galli F, Humphreys N, Adamson AD, Mironov A, Cain SA, Sengle G, Boot-Handford RP, Cossu G, Kielty CM, Baldock C.

Hum Mol Genet. 2018 Jul 27. doi: 10.1093/hmg/ddy276. [Epub ahead of print]

PMID:
30060141
20.

Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma.

Gu F, Chen TH, Pfeiffer RM, Fargnoli MC, Calista D, Ghiorzo P, Peris K, Puig S, Menin C, De Nicolo A, Rodolfo M, Pellegrini C, Pastorino L, Evangelou E, Zhang T, Hua X, DellaValle CT, Timothy Bishop D, MacGregor S, Iles MI, Law MH, Cust A, Brown KM, Stratigos AJ, Nagore E, Chanock S, Shi J; Melanoma Meta-Analysis Consortium; MelaNostrum Consortium, Landi MT.

Hum Mol Genet. 2018 Jul 30. doi: 10.1093/hmg/ddy282. [Epub ahead of print]

PMID:
30060076

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