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Results: 1 to 20 of 202

1.

Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.

Fliegauf M, L Bryant V, Frede N, Slade C, Woon ST, Lehnert K, Winzer S, Bulashevska A, Scerri T, Leung E, Jordan A, Keller B, de Vries E, Cao H, Yang F, Schäffer AA, Warnatz K, Browett P, Douglass J, Ameratunga RV, van der Meer JW, Grimbacher B.

Am J Hum Genet. 2015 Aug 12. pii: S0002-9297(15)00284-0. doi: 10.1016/j.ajhg.2015.07.008. [Epub ahead of print]

PMID:
26279205
2.

A Single Amino Acid Substitution in an ORANGE Protein Promotes Carotenoid Overaccumulation in Arabidopsis.

Yuan H, Owsiany K, Sheeja TE, Zhou X, Rodriguez C, Li Y, Chayut N, Yang Y, Welsch R, Thannhauser T, Parthasarathy M, Xu Q, Deng X, Fei Z, Schaffer AA, Katzir N, Burger J, Tadmor Y, Li L.

Plant Physiol. 2015 Jul 29. pii: pp.00971.2015. [Epub ahead of print]

3.

Phylogenetic analysis of multiple FISH markers in oral tongue squamous cell carcinoma suggests that a diverse distribution of copy number changes is associated with poor prognosis.

Wangsa D, Chowdhury SA, Ryott M, Gertz EM, Elmberger G, Auer G, Åvall Lundqvist E, Küffer S, Ströbel P, Schäffer AA, Schwartz R, Munck-Wikland E, Ried T, Heselmeyer-Haddad K.

Int J Cancer. 2015 Jul 15. doi: 10.1002/ijc.29691. [Epub ahead of print]

PMID:
26175310
4.

Multiple microRNAs within the 14q32 cluster target the mRNAs of major type 1 diabetes autoantigens IA-2, IA-2β, and GAD65.

Abuhatzira L, Xu H, Tahhan G, Boulougoura A, Schäffer AA, Notkins AL.

FASEB J. 2015 Jul 6. pii: fj.15-273649. [Epub ahead of print]

PMID:
26148972
5.

Inferring models of multiscale copy number evolution for single-tumor phylogenetics.

Chowdhury SA, Gertz EM, Wangsa D, Heselmeyer-Haddad K, Ried T, Schäffer AA, Schwartz R.

Bioinformatics. 2015 Jun 15;31(12):i258-67. doi: 10.1093/bioinformatics/btv233.

6.

A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase.

Sei Y, Zhao X, Forbes J, Szymczak S, Li Q, Trivedi A, Voellinger M, Joy G, Feng J, Whatley M, Jones MS, Harper UL, Marx SJ, Venkatesan AM, Chandrasekharappa SC, Raffeld M, Quezado MM, Louie A, Chen CC, Lim RM, Agarwala R, Schäffer AA, Hughes MS, Bailey-Wilson JE, Wank SA.

Gastroenterology. 2015 Jul;149(1):67-78. doi: 10.1053/j.gastro.2015.04.008. Epub 2015 Apr 9.

PMID:
25865046
7.

A 'golden' SNP in CmOr governs the fruit flesh color of melon (Cucumis melo).

Tzuri G, Zhou X, Chayut N, Yuan H, Portnoy V, Meir A, Sa'ar U, Baumkoler F, Mazourek M, Lewinsohn E, Fei Z, Schaffer AA, Li L, Burger J, Katzir N, Tadmor Y.

Plant J. 2015 Apr;82(2):267-79. doi: 10.1111/tpj.12814. Erratum in: Plant J. 2015 Sep;83(5):940.

PMID:
25754094
8.

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.

Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B.

J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25.

PMID:
25724123
9.

Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both.

Lanternier F, Mahdaviani SA, Barbati E, Chaussade H, Koumar Y, Levy R, Denis B, Brunel AS, Martin S, Loop M, Peeters J, de Selys A, Vanclaire J, Vermylen C, Nassogne MC, Chatzis O, Liu L, Migaud M, Pedergnana V, Desoubeaux G, Jouvion G, Chretien F, Darazam IA, Schäffer AA, Netea MG, De Bruycker JJ, Bernard L, Reynes J, Amazrine N, Abel L, Van der Linden D, Harrison T, Picard C, Lortholary O, Mansouri D, Casanova JL, Puel A.

J Allergy Clin Immunol. 2015 Jun;135(6):1558-68.e2. doi: 10.1016/j.jaci.2014.12.1930. Epub 2015 Feb 19.

PMID:
25702837
10.

Potential non-B DNA regions in the human genome are associated with higher rates of nucleotide mutation and expression variation.

Du X, Gertz EM, Wojtowicz D, Zhabinskaya D, Levens D, Benham CJ, Schäffer AA, Przytycka TM.

Nucleic Acids Res. 2014 Nov 10;42(20):12367-79. doi: 10.1093/nar/gku921. Epub 2014 Oct 21.

11.

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schäffer AA, Grüning BA, Unger S, Frede N, Baumann U, Witte T, Schmidt RE, Dueckers G, Niehues T, Seneviratne S, Kanariou M, Speckmann C, Ehl S, Rensing-Ehl A, Warnatz K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LS, Sansom DM, Grimbacher B.

Nat Med. 2014 Dec;20(12):1410-6. doi: 10.1038/nm.3746. Epub 2014 Oct 20.

PMID:
25329329
12.

Recombinant yeast as a functional tool for understanding bitterness and cucurbitacin biosynthesis in watermelon (Citrullus spp.).

Davidovich-Rikanati R, Shalev L, Baranes N, Meir A, Itkin M, Cohen S, Zimbler K, Portnoy V, Ebizuka Y, Shibuya M, Burger Y, Katzir N, Schaffer AA, Lewinsohn E, Tadmor Y.

Yeast. 2015 Jan;32(1):103-14. doi: 10.1002/yea.3049. Epub 2014 Nov 20.

PMID:
25308777
13.

Emerging multidrug resistance of methicillin-resistant Staphylococcus aureus in hand infections.

Tosti R, Samuelsen BT, Bender S, Fowler JR, Gaughan J, Schaffer AA, Ilyas AM.

J Bone Joint Surg Am. 2014 Sep 17;96(18):1535-40. doi: 10.2106/JBJS.M.01159.

PMID:
25232077
14.

Single-cell genetic analysis reveals insights into clonal development of prostate cancers and indicates loss of PTEN as a marker of poor prognosis.

Heselmeyer-Haddad KM, Berroa Garcia LY, Bradley A, Hernandez L, Hu Y, Habermann JK, Dumke C, Thorns C, Perner S, Pestova E, Burke C, Chowdhury SA, Schwartz R, Schäffer AA, Paris PL, Ried T.

Am J Pathol. 2014 Oct;184(10):2671-86. doi: 10.1016/j.ajpath.2014.06.030. Epub 2014 Aug 14.

15.

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

Boztug K, Järvinen PM, Salzer E, Racek T, Mönch S, Garncarz W, Gertz EM, Schäffer AA, Antonopoulos A, Haslam SM, Schieck L, Puchałka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Conde CD, Albert MH, Welte K, Brandes G, Sherkat R, van der Werff Ten Bosch J, Rezaei N, Etzioni A, Bellanné-Chantelot C, Superti-Furga G, Penninger JM, Bennett KL, von Blume J, Dell A, Donadieu J, Klein C.

Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17.

PMID:
25129144
16.

Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats.

David VA, Menotti-Raymond M, Wallace AC, Roelke M, Kehler J, Leighty R, Eizirik E, Hannah SS, Nelson G, Schäffer AA, Connelly CJ, O'Brien SJ, Ryugo DK.

G3 (Bethesda). 2014 Aug 1;4(10):1881-91. doi: 10.1534/g3.114.013425.

17.

Algorithms to model single gene, single chromosome, and whole genome copy number changes jointly in tumor phylogenetics.

Chowdhury SA, Shackney SE, Heselmeyer-Haddad K, Ried T, Schäffer AA, Schwartz R.

PLoS Comput Biol. 2014 Jul 31;10(7):e1003740. doi: 10.1371/journal.pcbi.1003740. eCollection 2014 Jul.

18.

The PH gene determines fruit acidity and contributes to the evolution of sweet melons.

Cohen S, Itkin M, Yeselson Y, Tzuri G, Portnoy V, Harel-Baja R, Lev S, Sa'ar U, Davidovitz-Rikanati R, Baranes N, Bar E, Wolf D, Petreikov M, Shen S, Ben-Dor S, Rogachev I, Aharoni A, Ast T, Schuldiner M, Belausov E, Eshed R, Ophir R, Sherman A, Frei B, Neuhaus HE, Xu Y, Fei Z, Giovannoni J, Lewinsohn E, Tadmor Y, Paris HS, Katzir N, Burger Y, Schaffer AA.

Nat Commun. 2014 Jun 5;5:4026. doi: 10.1038/ncomms5026.

PMID:
24898284
19.

Inherited biallelic CSF3R mutations in severe congenital neutropenia.

Triot A, Järvinen PM, Arostegui JI, Murugan D, Kohistani N, Dapena Díaz JL, Racek T, Puchałka J, Gertz EM, Schäffer AA, Kotlarz D, Pfeifer D, Díaz de Heredia Rubio C, Ozdemir MA, Patiroglu T, Karakukcu M, Sánchez de Toledo Codina J, Yagüe J, Touw IP, Unal E, Klein C.

Blood. 2014 Jun 12;123(24):3811-7. doi: 10.1182/blood-2013-11-535419. Epub 2014 Apr 21.

20.

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.

Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B.

J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13. doi: 10.1016/j.jaci.2014.02.025. Epub 2014 Apr 1.

PMID:
24698316
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