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Showing 1 to 12 of 64 entries
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Overexpression of aldo-keto-reductase in azole-resistant clinical isolates of Candida glabrata determined by cDNA-AFLP.

Daru : journal of Faculty of Pharmacy, Tehran University of Medical Sciences

Farahyar S, Zaini F, Kordbacheh P, Rezaie S, Safara M, Raoofian R, Heidari M.
PMID: 23351326
Daru. 2013 Jan 02;21(1):1. doi: 10.1186/2008-2231-21-1.

BACKGROUND: Candida glabrata causes significant medical problems in immunocompromised patients. Many strains of this yeast are intrinsically resistant to azole antifungal agents, and treatment is problematic, leading to high morbidity and mortality rates in immunosuppressed individuals. The primary goal...

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.

Molecular syndromology

Vona B, Maroofian R, Mendiratta G, Croken M, Peng S, Ye X, Rezazadeh J, Bahena P, Lekszas C, Haaf T, Edelmann L, Shi L.
PMID: 29456477
Mol Syndromol. 2017 Dec;9(1):5-14. doi: 10.1159/000480458. Epub 2017 Sep 22.

Multilocus analysis of rare or genetically heterogeneous diseases is a distinct advantage of next-generation sequencing (NGS) over conventional single-gene investigations. Recent studies have begun to uncover an under-recognized prevalence of dual molecular diagnoses in patients with a "blended" phenotype...

Corrigendum to "Optimized simple and affordable procedure for differentiation of monocyte-derived dendritic cells from LRF: An accessible and valid alternative biological source" [Exp. Cell Res. 406 (2) (15 September 2021) 112754].

Experimental cell research

Valizadeh M, Pourfathollah AA, Raoofian R, Homayoonfar A, Moazzeni M.
PMID: 34535298
Exp Cell Res. 2021 Oct 15;407(2):112812. doi: 10.1016/j.yexcr.2021.112812. Epub 2021 Sep 15.

No abstract available.

Biallelic variants in .

Journal of medical genetics

Maroofian R, Sedmík J, Mazaheri N, Scala M, Zaki MS, Keegan LP, Azizimalamiri R, Issa M, Shariati G, Sedaghat A, Beetz C, Bauer P, Galehdari H, O'Connell MA, Houlden H.
PMID: 32719099
J Med Genet. 2021 Jul;58(7):495-504. doi: 10.1136/jmedgenet-2020-107048. Epub 2020 Jul 27.

BACKGROUND: Adenosine-to-inosine RNA editing is a co-transcriptional/post-transcriptional modification of double-stranded RNA, catalysed by one of two active adenosine deaminases acting on RNA (ADARs), ADAR1 and ADAR2. METHODS: We studied three children from two consanguineous families with severe developmental and...

Further supporting evidence for .

Neurology. Genetics

Maroofian R, Behnam M, Kaiyrzhanov R, Salpietro V, Salehi M, Houlden H.
PMID: 31872057
Neurol Genet. 2019 Nov 15;5(6):e379. doi: 10.1212/NXG.0000000000000379. eCollection 2019 Dec.

No abstract available.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

American journal of human genetics

Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Toosi MB, Karimiani EG, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB.
PMID: 34087166
Am J Hum Genet. 2021 Jun 03;108(6):1164. doi: 10.1016/j.ajhg.2021.04.018.

No abstract available.

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.

HGG advances

Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM, Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D.
PMID: 33791682
HGG Adv. 2021 Jan 14;2(1). doi: 10.1016/j.xhgg.2020.100016. Epub 2020 Nov 21.

The Joubert-Meckel syndrome spectrum is a continuum of recessive ciliopathy conditions caused by primary cilium dysfunction. The primary cilium is a microtubule-based, antenna-like organelle that projects from the surface of most human cell types, allowing them to respond to...

Downregulation of Calcineurin Gene Is Associated with Glucantime(®) Resiatance in Leishmania infantum.

Iranian journal of parasitology

Bagher Khadem Erfan M, Mohebali M, Kazemi-Rad E, Hajjaran H, Edrissian G, Mamishi S, Saffari M, Raoofian R, Heidari M.
PMID: 24454427
Iran J Parasitol. 2013 Jul;8(3):359-66.

BACKGROUND: Pentavalent antimonials are the first line drugs for the treatment of leishmaniasis. Unresponsiveness of Leishmania spp. to antimonial drugs is a serious problem in some endemic areas. Investigations on molecular mechanisms involved in drug resistance are essential for...

Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family.

Iranian journal of reproductive medicine

Shekouhi S, Baghbani F, Hasanzadeh Nazar-Abadi M, Hamzehloie T, Abbaszadegan MR, Saghafi N, Raoofian R, Zavar Reza J, Ahmadzadeh S, Tabatabaiefar MA, Mojarrad M.
PMID: 24639804
Iran J Reprod Med. 2013 Aug;11(8):659-64.

BACKGROUND: Recurrent spontaneous abortion (RSA) is one of the most common health complications with a strong genetic component. Several genetic disorders were identified as etiological factors of hereditary X linked RSA. However, more genetic factors remain to be identified.OBJECTIVE:...

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.

American journal of human genetics

Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH.
PMID: 34800363
Am J Hum Genet. 2021 Dec 02;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19.

The 2-oxoglutarate dehydrogenase-like (OGDHL) protein is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism. OGDHL expression is restricted mainly to the brain in humans. Here, we report nine individuals from eight unrelated...

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Brain : a journal of neurology

Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta AT, Wood NW, Tran Mau-Them F, Haack T, Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Olgac Dundar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Català-Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J.
PMID: 34480796
Brain. 2021 Sep 04;144(8):e70. doi: 10.1093/brain/awab193.

No abstract available.

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Brain : a journal of neurology

Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR.
PMID: 34605855
Brain. 2021 Oct 04; doi: 10.1093/brain/awab369. Epub 2021 Oct 04.

The solute carrier (SLC) superfamily encompasses >400 transmembrane transporters involved in the exchange of amino acids, nutrients, ions, metals, neurotransmitters and metabolites across biological membranes. SLCs are highly expressed in the mammalian brain; defects in nearly 100 unique SLC-encoding...

Showing 1 to 12 of 64 entries