Works matching IS 09646906 AND DT 2018 AND VI 27

Results: 365

Vitamin D and overall cancer risk and cancer mortality: a Mendelian randomization study.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4315, doi. 10.1093/hmg/ddy307

By:

Ong, Jue-Sheng;
Gharahkhani, Puya;
An, Jiyuan;
Law, Matthew H;
Whiteman, David C;
Neale, Rachel E;
MacGregor, Stuart

Publication type:

Article

Sequential cleavage of the proteins encoded by HNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, results in products acting in distinct cellular compartments.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4231, doi. 10.1093/hmg/ddy315

By:

Hacker, Benedikt;
Schultheiß, Christoph;
Kurzik-Dumke, Ursula

Publication type:

Article

Plastin 3 influences bone homeostasis through regulation of osteoclast activity.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4249, doi. 10.1093/hmg/ddy318

By:

Neugebauer, Janine;
Heilig, Juliane;
Hosseinibarkooie, Seyyedmohsen;
Ross, Bryony C;
Mendoza-Ferreira, Natalia;
Nolte, Franziska;
Peters, Miriam;
Hölker, Irmgard;
Hupperich, Kristina;
Tschanz, Theresa

Publication type:

Article

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4218, doi. 10.1093/hmg/ddy313

By:

Castro, Sandra C P De;
Gustavsson, Peter;
Marshall, Abigail R;
Gordon, William M;
Galea, Gabriel;
Nikolopoulou, Evanthia;
Savery, Dawn;
Rolo, Ana;
Stanier, Philip;
Andersen, Bogi

Publication type:

Article

A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4204, doi. 10.1093/hmg/ddy311

By:

Marino, Valerio;
Cortivo, Giuditta Dal;
Oppici, Elisa;
Maltese, Paolo Enrico;
D'Esposito, Fabiana;
Manara, Elena;
Ziccardi, Lucia;
Falsini, Benedetto;
Magli, Adriano;
Bertelli, Matteo

Publication type:

Article

A novel mouse model of hemangiopericytoma due to loss of Tsc2.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4169, doi. 10.1093/hmg/ddy289

By:

Du, Heng;
Dreier, John R;
Zarei, Mahsa;
Wu, Chin-Lee;
Bronson, Roderick W;
Kwiatkowski, David J

Publication type:

Article

Loss of LDAH associated with prostate cancer and hearing loss.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4194, doi. 10.1093/hmg/ddy310

By:

Currall, Benjamin B;
Chen, Ming;
Sallari, Richard C;
Cotter, Maura;
Wong, Kristen E;
Robertson, Nahid G;
Penney, Kathryn L;
Lunardi, Andrea;
Reschke, Markus;
Hickox, Ann E

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4012, doi. 10.1093/hmg/ddy284

By:

Karaky, Mohamad;
Fedetz, María;
Potenciano, Victor;
Andrés-León, Eduardo;
Codina, Anna Esteve;
Barrionuevo, Cristina;
Alcina, Antonio;
Matesanz, Fuencisla

Publication type:

Article

Sarcolipin deletion in mdx mice impairs calcineurin signalling and worsens dystrophic pathology.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4094, doi. 10.1093/hmg/ddy302

By:

Fajardo, Val A;
Chambers, Paige J;
Juracic, Emma S;
Rietze, Bradley A;
Gamu, Daniel;
Bellissimo, Catherine;
Kwon, Frenk;
Quadrilatero, Joe;
Tupling, A Russell

Publication type:

Article

Prader–Willi locus Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4051, doi. 10.1093/hmg/ddy296

By:

Coulson, Rochelle L;
Powell, Weston T;
Yasui, Dag H;
Dileep, Gayathri;
Resnick, James;
LaSalle, Janine M

Publication type:

Article

A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4024, doi. 10.1093/hmg/ddy293

By:

Sasaki-Honda, Mitsuru;
Jonouchi, Tatsuya;
Arai, Meni;
Hotta, Akitsu;
Mitsuhashi, Satomi;
Nishino, Ichizo;
Matsuda, Ryoichi;
Sakurai, Hidetoshi

Publication type:

Article

A severe mouse model of spinal muscular atrophy develops early systemic inflammation.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4061, doi. 10.1093/hmg/ddy300

By:

Wan, Bo;
Feng, Pengchao;
Guan, Zeyuan;
Sheng, Lei;
Liu, Zhiyong;
Hua, Yimin

Publication type:

Article

The long non-coding RNA NEAT1 is elevated in polyglutamine repeat expansion diseases and protects from disease gene-dependent toxicities.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4303, doi. 10.1093/hmg/ddy331

By:

Cheng, Congsheng;
Spengler, Ryan M;
Keiser, Megan S;
Monteys, Alejandro Mas;
Rieders, Julianne M;
Ramachandran, Shyam;
Davidson, Beverly L

Publication type:

Article

Large-scale meta-analysis highlights the hypothalamic–pituitary–gonadal axis in the genetic regulation of menstrual cycle length.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4323, doi. 10.1093/hmg/ddy317

By:

Laisk, Triin;
Kukuškina, Viktorija;
Palmer, Duncan;
Laber, Samantha;
Chen, Chia-Yen;
Ferreira, Teresa;
Rahmioglu, Nilufer;
Zondervan, Krina;
Becker, Christian;
Smoller, Jordan W

Publication type:

Article

Genome-wide identification of FOXL2 binding and characterization of FOXL2 feminizing action in the fetal gonads.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4273, doi. 10.1093/hmg/ddy312

By:

Nicol, Barbara;
Grimm, Sara A;
Gruzdev, Artiom;
Scott, Greg J;
Ray, Manas K;
Yao, Humphrey H-C

Publication type:

Article

Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4333, doi. 10.1093/hmg/ddy319

By:

Kuiper, Jonas J W;
Setten, Jessica van;
Devall, Matthew;
Cretu-Stancu, Mircea;
Hiddingh, Sanne;
Ophoff, Roel A;
Missotten, Tom O A R;
Velthoven, Mirjam van;
Hollander, Anneke I Den;
Hoyng, Carel B

Publication type:

Article

Distinct functional roles of Vps41-mediated neuroprotection in Alzheimer's and Parkinson's disease models of neurodegeneration.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4176, doi. 10.1093/hmg/ddy308

By:

Griffin, Edward F;
Yan, Xiaohui;
Caldwell, Kim A;
Caldwell, Guy A

Publication type:

Article

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4263, doi. 10.1093/hmg/ddy320

By:

Ravenscroft, Gianina;
Zaharieva, Irina T;
Bortolotti, Carlo A;
Lambrughi, Matteo;
Pignataro, Marcello;
Borsari, Marco;
Sewry, Caroline A;
Phadke, Rahul;
Haliloglu, Goknur;
Ong, Royston

Publication type:

Article

Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 24, p. 4288, doi. 10.1093/hmg/ddy298

By:

Paakkola, Teija;
Salokas, Kari;
Miinalainen, Ilkka;
Lehtonen, Siri;
Manninen, Aki;
Kaakinen, Mika;
Ruddock, Lloyd W;
Varjosalo, Markku;
Kaarteenaho, Riitta;
Uusimaa, Johanna

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4157, doi. 10.1093/hmg/ddy281

By:

Zhang, Lin;
Sun, Zixi;
Zhao, Peiquan;
Huang, Lulin;
Xu, Mingchu;
Yang, Yeming;
Chen, Xue;
Lu, Fang;
Zhang, Xiang;
Wang, Hui

Publication type:

Article

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4135, doi. 10.1093/hmg/ddy305

By:

Pacheu-Grau, David;
Callegari, Sylvie;
Emperador, Sonia;
Thompson, Kyle;
Aich, Abhishek;
Topol, Sarah E;
Spencer, Emily G;
McFarland, Robert;
Ruiz-Pesini, Eduardo;
Torkamani, Ali

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3911, doi. 10.1093/hmg/ddy286

By:

Tran, Tina N;
Schimenti, John C

Publication type:

Article

PIN1 is a new therapeutic target of craniosynostosis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3827, doi. 10.1093/hmg/ddy252

By:

Shin, H R;
Bae, H S;
Kim, B S;
Yoon, H I;
Cho, Y D;
Kim, W J;
Choi, K Y;
Lee, Y S;
Woo, K M;
Baek, J H

Publication type:

Article

A non-coding genetic variant maximally associated with serum urate levels is functionally linked to HNF4A-dependent PDZK1 expression.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3964, doi. 10.1093/hmg/ddy295

By:

Ketharnathan, Sarada;
Leask, Megan;
Boocock, James;
Phipps-Green, Amanda J;
Antony, Jisha;
O'Sullivan, Justin M;
Merriman, Tony R;
Horsfield, Julia A

Publication type:

Article

In silico drug screening by using genome-wide association study data repurposed dabrafenib, an anti-melanoma drug, for Parkinson's disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3974, doi. 10.1093/hmg/ddy279

By:

Uenaka, Takeshi;
Satake, Wataru;
Cha, Pei-Chieng;
Hayakawa, Hideki;
Baba, Kousuke;
Jiang, Shiying;
Kobayashi, Kazuhiro;
Kanagawa, Motoi;
Okada, Yukinori;
Mochizuki, Hideki

Publication type:

Article

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3986, doi. 10.1093/hmg/ddy306

By:

Khanshour, Anas M;
Kou, Ikuyo;
Fan, Yanhui;
Einarsdottir, Elisabet;
Makki, Nadja;
Kidane, Yared H;
Kere, Juha;
Grauers, Anna;
Johnson, Todd A;
Paria, Nandina

Publication type:

Article

MeCP2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of Rett syndrome.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4077, doi. 10.1093/hmg/ddy301

By:

Ciernia, Annie Vogel;
Yasui, Dag H;
Pride, Michael C;
Durbin-Johnson, Blythe;
Noronha, Adriana B;
Chang, Alene;
Knotts, Trina A;
Rutkowsky, Jennifer R;
Ramsey, Jon J;
Crawley, Jacqueline N

Publication type:

Article

Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4117, doi. 10.1093/hmg/ddy304

By:

Irmak, Dilber;
Fatima, Azra;
Gutiérrez-Garcia, Ricardo;
Rinschen, Markus M;
Wagle, Prerana;
Altmüller, Janine;
Arrigoni, Laura;
Hummel, Barbara;
Klein, Corinna;
Frese, Christian K

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 3999, doi. 10.1093/hmg/ddy274

By:

Pólvora-Brandão, Duarte;
Joaquim, Mariana;
Godinho, Inês;
Aprile, Domenico;
Álvaro, Ana Rita;
Onofre, Isabel;
Raposo, Ana Cláudia;
Almeida, Luís Pereira de;
Duarte, Sofia T;
Rocha, Simão T da

Publication type:

Article

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4036, doi. 10.1093/hmg/ddy290

By:

Weterman, Marian A J;
Kuo, Molly;
Kenter, Susan B;
Gordillo, Sara;
Karjosukarso, Dyah W;
Takase, Ryuichi;
Bronk, Marieke;
Oprescu, Stephanie;
Ruissen, Fred van;
Witteveen, Ron J W

Publication type:

Article

FUS-induced neurotoxicity in Drosophila is prevented by downregulating nucleocytoplasmic transport proteins.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4103, doi. 10.1093/hmg/ddy303

By:

Steyaert, Jolien;
Scheveneels, Wendy;
Vanneste, Joni;
Damme, Philip Van;
Robberecht, Wim;
Callaerts, Patrick;
Bogaert, Elke;
Bosch, Ludo Van Den

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 23, p. 4145, doi. 10.1093/hmg/ddy282

By:

Gu, Fangyi;
Chen, Ting-Huei;
Pfeiffer, Ruth M;
Fargnoli, Maria Concetta;
Calista, Donato;
Ghiorzo, Paola;
Peris, Ketty;
Puig, Susana;
Menin, Chiara;
Nicolo, Arcangela De

Publication type:

Article

Tauopathy-associated PERK alleles are functional hypomorphs that increase neuronal vulnerability to ER stress.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3951, doi. 10.1093/hmg/ddy297

By:

Yuan, Shauna H;
Hiramatsu, Nobuhiko;
Liu, Qing;
Sun, Xuehan Victoria;
Lenh, David;
Chan, Priscilla;
Chiang, Karen;
Koo, Edward H;
Kao, Aimee W;
Litvan, Irene

Publication type:

Article

Rescue of biosynthesis of nicotinamide adenine dinucleotide protects the heart in cardiomyopathy caused by lamin A/C gene mutation.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3870, doi. 10.1093/hmg/ddy278

By:

Vignier, Nicolas;
Chatzifrangkeskou, Maria;
Rodriguez, Blanca Morales;
Mericskay, Mathias;
Mougenot, Nathalie;
Wahbi, Karim;
Bonne, Gisèle;
Muchir, Antoine

Publication type:

Article

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3919, doi. 10.1093/hmg/ddy275

By:

Oleaga-Quintas, Carmen;
Deswarte, Caroline;
Moncada-Vélez, Marcela;
Metin, Ayse;
Rao, Indumathi Krishna;
Kanık-Yüksek, Saliha;
Nieto-Patlán, Alejandro;
Guérin, Antoine;
Gülhan, Belgin;
Murthy, Savita

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3936, doi. 10.1093/hmg/ddy292

By:

Zhang, Feiran;
Kang, Yunhee;
Wang, Mengli;
Li, Yujing;
Xu, Tianlei;
Yang, Wei;
Song, Hongjun;
Wu, Hao;
Shu, Qiang;
Jin, Peng

Publication type:

Article

Epigenetic changes of the thioredoxin system in the tx-j mouse model and in patients with Wilson disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3854, doi. 10.1093/hmg/ddy262

By:

Mordaunt, Charles E;
Shibata, Noreene M;
Kieffer, Dorothy A;
Członkowska, Anna;
Litwin, Tomasz;
Weiss, Karl Heinz;
Gotthardt, Daniel N;
Olson, Kristin;
Wei, Dongguang;
Cooper, Stewart

Publication type:

Article

CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3881, doi. 10.1093/hmg/ddy270

By:

Huang, Xiaoping;
Wu, Beverly P;
Nguyen, Diana;
Liu, Yi-Ting;
Marani, Melika;
Hench, Jürgen;
Bénit, Paule;
Kozjak-Pavlovic, Vera;
Rustin, Pierre;
Frank, Stephan

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3901, doi. 10.1093/hmg/ddy285

By:

Han, Buhm;
Akiyama, Masato;
Kim, Kyung-Kon;
Oh, Hyunjung;
Choi, Hyunchul;
Lee, Cue Hyunkyu;
Jung, Seulgi;
Lee, Ho-Su;
Kim, Emma E;
Cook, Seungho

Publication type:

Article

Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 22, p. 3840, doi. 10.1093/hmg/ddy253

By:

Forouhan, Mitra;
Sonntag, Stephan;
Boot-Handford, Raymond P

Publication type:

Article

Loss of Sarm1 does not suppress motor neuron degeneration in the SOD1G93A mouse model of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3761, doi. 10.1093/hmg/ddy260

By:

Peters, Owen M;
Lewis, Elizabeth A;
Osterloh, Jeannette M;
Weiss, Alexandra;
Salameh, Johnny S;
Metterville, Jake;
Brown, Robert H;
Freeman, Marc R

Publication type:

Article

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart fieldHuman Molecular Genetics, 2018, Vol. 27, No. 8Human Molecular Genetics, 2018, Vol. 27, No. 8.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3747, doi. 10.1093/hmg/ddy266

By:

Bono, Christopher De;
Thellier, Charlotte;
Bertrand, Nicolas;
Sturny, Rachel;
Jullian, Estelle;
Cortes, Claudio;
Stefanovic, Sonia;
Zaffran, Stéphane;
Théveniau-Ruissy, Magali;
Kelly, Robert G

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3734, doi. 10.1093/hmg/ddy288

By:

Sagheddu, Roberta;
Chiappalupi, Sara;
Salvadori, Laura;
Riuzzi, Francesca;
Donato, Rosario;
Sorci, Guglielmo

Publication type:

Article

COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3772, doi. 10.1093/hmg/ddy256

By:

Suri, Fatemeh;
Yazdani, Shahin;
Chapi, Marjan;
Safari, Iman;
Rasooli, Paniz;
Daftarian, Narsis;
Jafarinasab, Mohammad Reza;
Firouzabadi, Saghar Ghasemi;
Alehabib, Elham;
Darvish, Hossein

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3825, doi. 10.1093/hmg/ddy291

By:

Jacquemont, Sébastien;
Pacini, Laura;
Jønch, Aia E;
Cencelli, Giulia;
Rozenberg, Izabela;
He, Yunsheng;
D'Andrea, Laura;
Pedini, Giorgia;
Eldeeb, Marwa;
Willemsen, Rob

Publication type:

Article

Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3801, doi. 10.1093/hmg/ddy269

By:

Qiao, Dandi;
Ameli, Asher;
Prokopenko, Dmitry;
Chen, Han;
Kho, Alvin T;
Parker, Margaret M;
Morrow, Jarrett;
Hobbs, Brian D;
Liu, Yanhong;
Beaty, Terri H

Publication type:

Article

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3669, doi. 10.1093/hmg/ddy277

By:

Smigiel, Robert;
Sherman, Diane L;
Rydzanicz, Małgorzata;
Walczak, Anna;
Mikolajkow, Dorota;
Krolak-Olejnik, Barbara;
Kosińska, Joanna;
Gasperowicz, Piotr;
Biernacka, Anna;
Stawinski, Piotr

Publication type:

Article

Basonuclin 1 deficiency is a cause of primary ovarian insufficiency.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3787, doi. 10.1093/hmg/ddy261

By:

Zhang, Dan;
Liu, Yifeng;
Zhang, Zhou;
Lv, Pingping;
Liu, Yun;
Li, Jingyi;
Wu, Yiqing;
Zhang, Runjv;
Huang, Yun;
Xu, Gufeng

Publication type:

Article

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3651, doi. 10.1093/hmg/ddy241

By:

Cocciadiferro, Dario;
Augello, Bartolomeo;
Nittis, Pasquelena De;
Zhang, Jiyuan;
Mandriani, Barbara;
Malerba, Natascia;
Squeo, Gabriella M;
Romano, Alessandro;
Piccinni, Barbara;
Verri, Tiziano

Publication type:

Article

Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3697, doi. 10.1093/hmg/ddy247

By:

Maclean, Andrew E;
Kimonis, Virginia E;
Balk, Janneke

Publication type:

Article