M
Masoud Zabihi
Publications - 4
Citations - 21
Masoud Zabihi is an academic researcher. The author has contributed to research in topics: Gene & RNA-Seq. The author has an hindex of 1, co-authored 3 publications receiving 4 citations.
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Journal ArticleDOI
Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
Leila Youssefian,Amir Hossein Saeidian,Fahimeh Palizban,Atefeh Bagherieh,Fahimeh Abdollahimajd,Soheila Sotoudeh,Nikoo Mozafari,Rahele A. Farahani,Hamidreza Mahmoudi,Sadegh Babashah,Masoud Zabihi,Sirous Zeinali,Paolo Fortina,Paolo Fortina,Julio C. Salas-Alanis,Andrew P. South,Hassan Vahidnezhad,Jouni Uitto +17 more
TL;DR: In this paper, the authors analyzed the whole transcriptome of 40 families with different types of Mendelian skin disorders with extensive genetic heterogeneity and found pathogenic mutations in 35 families (88%) with RNA-seq in combination with other next-generation sequencing methods, and successfully prioritized variants and found the culprit genes.
Journal ArticleDOI
Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.
Tina Asgari,Mahtab Naji,Parvin Mansouri,Hamidreza Mahmoudi,Masoud Zabihi,Leila Youssefian,Mohammad Reza Mahdavi,Zahra Safaei Naraghi,Sirous Zeinali,Hassan Vahidnezhad,Jouni Uitto +10 more
TL;DR: Two patients from two distinct families with KID syndrome with the same GJB2 mutation are reported, in both cases the mutation was de novo, as the parents depicted the wild‐type allele only.
Journal ArticleDOI
Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
Hassan Vahidnezhad,Leila Youssefian,Amir Hossein Saeidian,Lynn M. Boyden,Andrew Touati,Nailah Harvey,Mahtab Naji,Masoud Zabihi,Mohammadreza Barzegar,Soheila Sotoudeh,Lu Liu,Alyson Guy,Ariana Kariminejad,Sirous Zeinali,Keith A. Choate,John A. McGrath,Jouni Uitto +16 more
TL;DR: In this paper, the authors investigated a patient clinically diagnosed as KEB with reduced FERMT1 gene expression and intensity of immunostaining for kindlin-1, and showed that EB-associated mRNA downregulation was confirmed at protein levels by skin immunofluorescence.
Journal ArticleDOI
Ichthyosis follicularis syndromes in patients with mutations in GJB2
Leila Youssefian,Mahtab Naji,Jason S Park,Fatemeh Rajabi,Fahimeh Abdollahimajd,Hamidreza Mahmoudi,Kambiz Kamyab-Hesari,Fariba Ghalamkarpour,Masoud Zabihi,M Teimoorian,Laya Youssefian,Sirous Zeinali,Hassan Vahidnezhad,Jouni Uitto +13 more
TL;DR: The genetic cause of IF in two distinct families from a cohort of 180 patients with ichthyosis is sought and the association of PEODDN‐like entities with GJB2 variants is emphasized to add to the clinical and histopathological spectrum of IF.