Jouni Uitto (J C Salas-Alanis, J Uitto)

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 44

Top Topics

Genome Wide Association

Gene Expression

Coronavirus Disease

Top Venues

Experimental dermatology

Dermatologic therapy

The British journal of dermatology

This page only lists publications with an associated author ORCID identifier.

Publications

Hassan Vahidnezhad, Leila Youssefian, Mohammad Hossein Anbardar, Sirous Zeinali, Rahele A Farahani, Jouni Uitto
Very-Early-Onset Inflammatory Bowel Disease in a Patient With Junctional Epidermolysis Bullosa With a Homozygous Mutation in the α6 Integrin Gene (ITGA6). Inflammatory bowel diseases 27 (11) (2022)
Douglas Ralph, Michael A Levine, Gabriele Richard, Michelle M Morrow, Elizabeth K Flynn, Jouni Uitto, Qiaoli Li
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma. Human mutation 43 (9) (2022)
Masato Ogishi, Jean-Laurent Casanova, Rémy Rodriguez, Dominic P Golec, Emmanuel Martin, Quentin Philippot, Jonathan Bohlen, Simon J Pelham, Andrés Augusto Arias, Taushif Khan, Manar Mahmoud Ahmad Ata, Fatima Al Ali, Flore Rozenberg, Xiao-Fei Kong, Maya Chrabieh, Candice Lainé, Wei-Te Lei, Ji Eun Han, Yoann Seeleuthner, Zenia Kaul, Emmanuelle Jouanguy, Vivien Béziat, Leila Youssefian, Hassan Vahidnezhad, V Koneti Rao, Bénédicte Neven, Claire Fieschi, Davood Mansouri, Mohammad Shahrooei, Sevgi Pekcan, Gülsüm Alkan, Melike Emiroğlu, Hüseyin Tokgöz, Jouni Uitto, Fabian Hauck, Jacinta Bustamante, Laurent Abel, Sevgi Keles, Nima Parvaneh, Nico Marr, Pamela L Schwartzberg, Sylvain Latour, Jean Laurent Casanova, Stéphanie Boisson-Dupuis
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis. The Journal of experimental medicine 220 (1) (2022)
Ida Joely Jacobs, Zhiliang Cheng, Douglas Ralph, Kevin O'Brien, Lisa Flaman, Jennifer Howe, David Thompson, Jouni Uitto, Qiaoli Li, Yves Sabbagh
INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6 -/- mouse model of pseudoxanthoma elasticum. Experimental dermatology 31 (7) (2022)
Vitali Y Alexeev, Leonie Huitema, Taylor Phillips, Rodrigo Cepeda, Diego de Los Cobos, Regina Isabella Matus Perez, Mauricio Salas-Garza, Oscar R Fajardo-Ramirez, Franziska Ringpfeil, Jouni Uitto, Julio Cesar Salas-Alanis, Olga Igoucheva
T-cell activation and bacterial infection in skin wounds of recessive dystrophic epidermolysis bullosa patients. Experimental dermatology 31 (9) (2022)
Mohammad Reza Pourani, Hassan Vahidnezhad, Parvin Mansuri, Leila Youssefian, Azadeh Rakhshan, Behzad Hajimoradi, Fahimeh Abdollahimajd, Jouni Uitto
Losartan treatment improves recessive dystrophic epidermolysis bullosa: A case series. Dermatologic therapy 35 (7) (2022)
Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Beatrix Molnar, Qiaoli Li, Sharon F Terry, Federica Boraldi, Jouni Uitto, Koen van de Wetering, Ludovic Martin, Daniela Quaglino, Olivier M Vanakker, Kálmán Tory, Tamás Arányi
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals. Human mutation (2022)
Fatemeh Mohaghegh, Leila Youssefian, Hamid Galehdari, Narjes Tavakoli, Hassan Vahidnezhad, Jouni Uitto
Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease. Experimental dermatology 31 (6) (2022)
Hassan Vahidnezhad, Leila Youssefian, Nailah Harvey, Ali Reza Tavasoli, Amir Hossein Saeidian, Soheila Sotoudeh, Aida Varghaei, Hamidreza Mahmoudi, Parvin Mansouri, Nikoo Mozafari, Omid Zargari, Sirous Zeinali, Jouni Uitto
Mutation update: The spectra of PLEC sequence variants and related plectinopathies. Human mutation (2022)
Qiaoli Li, Sharon F Terry, Jouni Uitto
Comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis. The Journal of dermatology 49 (7) (2022)
Jason S Park, Amir Hossein Saeidian, Leila Youssefian, Sylvia Hsu, Hassan Vahidnezhad, Jouni Uitto
Acquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug-induced associations. Journal of the European Academy of Dermatology and Venereology : JEADV (2022)
Raziyeh Khalesi, Nailah Harvey, Masoud Garshasbi, Elnaz Kalamati, Leila Youssefian, Hassan Vahidnezhad, Jouni Uitto
Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI). Experimental dermatology 31 (6) (2022)
Leila Youssefian, Mahtab Naji, Jason S Park, Fateme Rajabi, Fahimeh Abdollahimajd, Hamid Reza Mahmoudi, Kambiz Kamyab-Hesari, Fariba Ghalamkarpour, Masoud Zabihi, Mehrdad Teimoorian, Laya Youssefian, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto
Ichthyosis follicularis syndromes in patients with mutations in GJB2. Clinical and experimental dermatology 47 (8) (2022)
Irene Navarro-Navarro, David Jimenez-Gallo, Raquel de la Varga-Martínez, I Villegas-Romero, F Mora-López, Mario Linares-Barrios, Leila Youssefian, Hassan Vahidnezhad, Jouni Uitto
Novel splice mutation in CDSN gene causing type b peeling skin syndrome. Journal of the European Academy of Dermatology and Venereology : JEADV 36 (6) (2022)
Forough Shams, Azam Rahimpour, Hassan Vahidnezhad, Simzar Hosseinzadeh, Hamideh Moravvej, Bahram Kazemi, Masoumeh Rajabibazl, Fahimeh Abdollahimajd, Jouni Uitto
The utility of dermal fibroblasts in treatment of skin disorders: A paradigm of recessive dystrophic epidermolysis bullosa. Dermatologic therapy 34 (4) (2021)
Eszter Kozák, Krisztina Fülöp, Natália Tőkési, Nidhi Rao, Qiaoli Li, Sharon F Terry, Jouni Uitto, Xiaoming Zhang, Cyrus Becker, András Váradi, Viola Pomozi
Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum. Experimental dermatology (2021)
Emily Mira Warshauer, Adam Brown, Ignacia Fuentes, Jonathan Shortt, Chris Gignoux, Francesco Montinaro, Mait Metspalu, Leila Youssefian, Hassan Vahidnezhad, Joanna Jacków, Angela M Christiano, Jouni Uitto, Óscar R Fajardo-Ramírez, Julio C Salas-Alanis, John A McGrath, Liliana Consuegra, Carolina Rivera, Paul A Maier, Goran Runfeldt, Doron M Behar, Karl Skorecki, Eli Sprecher, Francis Palisson, David A Norris, Anna L Bruckner, Igor Kogut, Ganna Bilousova, Dennis R Roop
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry. American journal of medical genetics. Part A 185 (11) (2021)
M H Tirgan, Jouni Uitto
Lack of efficacy of dupilumab in the treatment of keloid disorder. Journal of the European Academy of Dermatology and Venereology : JEADV (2021)
Ida Joely Jacobs, Diana Li, Mattias E Ivarsson, Jouni Uitto, Qiaoli Li
A phytic acid analogue INS-3001 prevents ectopic calcification in an Abcc6-/- mouse model of pseudoxanthoma elasticum. Experimental dermatology 30 (6) (2021)
Bahar Dasgeb, Sara Pajouhanfar, Ali Jazayeri, Elizabeth Schoenberg, Gaurav Kumar, Paolo Fortina, Adam C Berger, Jouni Uitto
Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy. Experimental dermatology (2021)
Fatemeh Atazadeh, Zahra Fazeli, Hassan Vahidnezhad, Nastaran Namazi, Shima Younespour, Leila Youssefian, Fahimeh Abdollahimajd, Jouni Uitto
Increased level of cathelicidin (LL-37) in vitiligo: Possible pathway independent from vitamin D receptor gene polymorphism. Experimental dermatology 29 (12) (2020)
Fahimeh Abdollahimajd, Leila Youssefian, Mohammad Reza Pourani, Hassan Vahidnezhad, Jouni Uitto
Coronavirus disease 2019 and epidermolysis bullosa: Report of three cases. Dermatologic therapy 33 (6) (2020)
Jouni Uitto, Hassan Vahidnezhad
Losartan for treatment of epidermolysis bullosa: A new perspective. Dermatologic therapy 34 (1) (2020)
Tina Asgari, Mahtab Naji, Parvin Mansuri, Hamid Reza Mahmoudi, Masoud Zabihi, Leila Youssefian, Mohammadreza Mahdavi, Zahra Safaei Naraghi, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto
Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation. Dermatologic therapy 33 (6) (2020)
Hassan Vahidnezhad, Leila Youssefian, Soheila Sotoudeh, Lu Liu, Alyson Guy, Patricia A Lovell, Ariana Kariminejad, Sirous Zeinali, John A McGrath, Jouni Uitto
Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica. Human mutation 41 (5) (2020)
Amir Hossein Saeidian, Adam J Cohen-Nowak, Megan O'Donnell, Doaa Shalabi, Kathleen P McGuinn, Leila Youssefian, Hassan Vahidnezhad, Fatemeh Niaziorimi, Bahar Dasgeb, David A Kasper, Jason B Lee, Jouni Uitto, Neda Nikbakht
Linear basal cell nevus with a novel mosaic PTCH1 mutation. Experimental dermatology 29 (6) (2020)
Cristina Has, J W Bauer, C Bodemer, M C Bolling, L Bruckner-Tuderman, A Diem, J-D Fine, Adrian H M Heagerty, A Hovnanian, M P Marinkovich, A E Martinez, John A McGrath, Celia Moss, Dedee Frances Murrell, F Palisson, A Schwieger-Briel, E Sprecher, K Tamai, Jouni Uitto, D T Woodley, G Zambruno, Jemima E Mellerio
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. The British journal of dermatology 183 (4) (2020)
D Li, E Ryu, A H Saeidian, Leila Youssefian, E Oliphant, S F Terry, P L Tong, Jouni Uitto, Nikolas K Haass, Qiaoli Li
GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. The British journal of dermatology 184 (6) (2020)
Edward J Macarak, Peter J Wermuth, Joel Rosenbloom, Jouni Uitto
Keloid disorder: Fibroblast differentiation and gene expression profile in fibrotic skin diseases. Experimental dermatology 30 (1) (2020)
Elham Behrangi, Afsaneh Sadeghzadeh-Bazargan, Sepehr Khosravi, Mahsa Shemshadi, Leila Youssefian, Hassan Vahidnezhad, Azadeh Goodarzi, Jouni Uitto
Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation. Dermatologic therapy 33 (6) (2020)
Andrew Touati, Amir Hossein Saeidian, Leila Youssefian, Masoomeh Faghankhani, Fatemeh Niaziorimi, Sara Pajouhanfar, Hassan Vahidnezhad, Jouni Uitto
The matriptase-prostasin proteolytic cascade in dermatologic diseases. Experimental dermatology 29 (7) (2020)
Amir Hossein Saeidian, Hassan Vahidnezhad, Leila Youssefian, Soheila Sotudeh, Meisam Sargazi, Sirous Zeinali, Jouni Uitto
Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing. Molecular genetics & genomic medicine 7 (11) (2019)
Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Andrew Touati, Soheila Sotoudeh, Hamidreza Mahmoudi, Parvin Mansouri, Maryam Daneshpazhooh, Nessa Aghazadeh, Kambiz Kamyab Hesari, Mohammadreza Basiri, Eric Londin, Gaurav Kumar, Sirous Zeinali, Paolo Fortina, Jouni Uitto
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Human mutation 40 (3) (2019)
Jouni Uitto
Epidermolysis bullosa: diagnostic guidelines in the laboratory setting. The British journal of dermatology 182 (3) (2019)
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Andrew Touati, Soheila Sotoudeh, Ali Jazayeri, Alyson Guy, Patricia A Lovell, Lu Liu, Ariana Kariminejad, John A McGrath, Sirous Zeinali, Jouni Uitto
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Human mutation 39 (10) (2018)
Leila Youssefian, Hassan Vahidnezhad, Andrew Touati, Vahid Ziaee, Amir Hossein Saeidian, Sara Pajouhanfar, Sirous Zeinali, Jouni Uitto
The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series. BMC medical genetics 19 (1) (2018)
L Youssefian, A Touati, H Vahidnezhad, A H Saeidian, S Sotoudeh, S Zeinali, Jouni Uitto
Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects. The British journal of dermatology 178 (3) (2018)
Fahimeh Abdollahimajd, Fateme Rajabi, M Shahidi-Dadras, S Saket, L Youssefian, H Vahidnezhad, Jouni Uitto
Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation. The British journal of dermatology 181 (3) (2018)
Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Hamidreza Mahmoudi, Razieh Karamzadeh, Ariana Kariminejad, Jianhe Huang, Leping Li, Thomas F Jannace, Paolo Fortina, Sirous Zeinali, Thomas W White, Jouni Uitto
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. Human mutation 40 (2) (2018)
A H Saeidian, L Youssefian, G M Rosales-Solis, H Vahidnezhad, V S Atanasova, J Uitto, A P South, Jouni Uitto
First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru. Clinical and experimental dermatology 43 (6) (2018)
Sarah Jill de Jong, Amandine Créquer, Irina Matos, David Hum, Vignesh Gunasekharan, Lazaro Lorenzo, Fabienne Jabot-Hanin, Elias Imahorn, Andrés Augusto Arias, Hassan Vahidnezhad, Leila Youssefian, Janet G Markle, Etienne Patin, Aurelia D'Amico, Claire Q F Wang, Florian Full, Ensser Armin, Tina M Leisner, Leslie V Parise, Matthieu Bouaziz, Nataly Portilla Maya, Xavier Rueda Cadena, Bayaki Saka, Amir Hossein Saeidian, Nessa Aghazadeh, Sirous Zeinali, Peter Itin, James G Krueger, Lou Laimins, Laurent Abel, Elaine Fuchs, Jouni Uitto, Jose Luis Franco, Bettina Burger, Gérard Orth, Emmanuelle Jouanguy, Jean Laurent Casanova
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses. The Journal of experimental medicine 215 (9) (2018)
A H Saeidian, L Youssefian, M G Moreno Trevino, G Fortuna, H Vahidnezhad, V S Atanasova, Jouni Uitto, J C Salas-Alanis, A P South
Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. Clinical and experimental dermatology 43 (5) (2018)
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Sirous Zeinali, Andrew Touati, Maryam Abiri, Soheila Sotoudeh, Sara Norouz-Zadeh, Niloufar Amirinezhad, Nikoo Mozafari, Maryam Daneshpazhooh, Hamidreza Mahmoudi, Mohammad Hamid, Jonathan P Bradfield, Cecilia E Kim, Hakon Hakonarson, Jouni Uitto
Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. Experimental dermatology 28 (10) (2018)
L M Boyden, B G Craiglow, R H Hu, J Zhou, J Browning, L Eichenfield, Y L Lim, M Luu, L M Randolph, M Ginarte, L Fachal, L Rodriguez-Pazos, A Vega, D Kramer, G Yosipovitch, H Vahidnezhad, L Youssefian, Jouni Uitto, R P Lifton, A S Paller, L M Milstone, Keith A Choate
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. The British journal of dermatology 177 (1) (2017)