Zobrazeno 1 - 10
of 1 657
pro vyhledávání: '"Jouni, Uitto"'
Autor:
Leila Youssefian, Amir Hossein Saeidian, Zahra Saffarian, Mona Ariamanesh, Fahimeh Abdollahimajd, Sara Molkara, Mohammad Shahidi-Dadras, Reem Diab, Fatemeh Vahidnezhad, Sirous Zeinali, Vivien Béziat, Emmanuelle Jouanguy, Jean-Laurent Casanova, Jouni Uitto, Hassan Vahidnezhad
Publikováno v:
JID Innovations, Vol 4, Iss 4, Pp 100278- (2024)
Most viral infections can be self-limited, with no requirement for medical intervention. However, the same viruses can cause severe diseases in patients with compromised immunity due to single-gene diseases, acquired immune deficiency syndrome, or he
Externí odkaz:
https://doaj.org/article/dc896b1c835c43f8ae7219a7ffba12b1
Autor:
Amir Hossein Saeidian, Leila Youssefian, Mahtab Naji, Hamidreza Mahmoudi, Samantha M. Barnada, Charles Huang, Karim Naghipoor, Amir Hozhabrpour, Jason S. Park, Flavia Manzo Margiotta, Fatemeh Vahidnezhad, Zahra Saffarian, Kambiz Kamyab-Hesari, Mohammad Tolouei, Niloofar Faraji, Seyyede Zeinab Azimi, Ghazal Namdari, Parvin Mansouri, Jean-Laurent Casanova, Vivien Béziat, Emmanuelle Jouanguy, Jouni Uitto, Hassan Vahidnezhad
Publikováno v:
JCI Insight, Vol 8, Iss 5 (2023)
HPVs are DNA viruses include approximately 450 types that are classified into 5 genera (α-, β-, γ-, μ-, and ν-HPV). The γ- and β-HPVs are present in low copy numbers in healthy individuals; however, in patients with an inborn error of immunity
Externí odkaz:
https://doaj.org/article/9e248cc04e0543ff9964e5f4094c74bd
Autor:
Leila Youssefian, Hassan Vahidnezhad, Jouni Uitto, Amir Hossein Saeidian, Rana Samii, Elnaz Kalamati, Ali Reza Tavasoli, Zahra Saffarian, John A. McGrath, Soheila Sotoudeh
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100394- (2023)
Externí odkaz:
https://doaj.org/article/5078f96175b74cb19fbe3a91056b0cad
Autor:
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Jouni Uitto, Fatemeh Vahidnezhad, Zahra Saffarian, Niloofar Faraji
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100736- (2023)
Externí odkaz:
https://doaj.org/article/05cccea0b6f5404fb64671ac6ff76ff1
Autor:
Sirous Zeinali, Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Soheila Sotoudeh, Hamideh Bagherian, Jouni Uitto
Publikováno v:
International Journal of Dermatology and Venerology, Vol 4, Iss 2, Pp 82-85 (2021)
Abstract. Objective:. Isolated hereditary hypotrichosis is caused by mutations in as many as 11 different genes. The conventional mutation detection strategy consists of sequencing of individual candidate genes separately, a time consuming and costly
Externí odkaz:
https://doaj.org/article/3b59bf5d98ba4093951c096a28afbe2e
Autor:
Bahar Dasgeb, Youssefian Leila, Amir Hossein Saeidian, Jun Kang, Wenyin Shi, Elizabeth Shoenberg, Adam Ertel, Paolo Fortina, Hassan Vahidnezhad, Jouni Uitto
Publikováno v:
International Journal of Dermatology and Venerology, Vol 4, Iss 2, Pp 70-75 (2021)
Abstract. Objective:. Well-defined germ-line mutations in the PTCH1 gene are associated with syndromic multiple basal cell carcinomas (BCCs). Here, we used whole exome sequencing (WES) to identify the role of patched-1 in patients with multiple, unus
Externí odkaz:
https://doaj.org/article/2a95672cb3a3409fa0fed6cf529f1a03
Publikováno v:
International Journal of Dermatology and Venerology, Vol 3, Iss 4, Pp 198-204 (2020)
Abstract. Objective:. Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, an
Externí odkaz:
https://doaj.org/article/a38ed1a3e16641f1ba0c54ef4c94ec6d
Autor:
Hassan Vahidnezhad, Leila Youssefian, Masoomeh Faghankhani, Nikoo Mozafari, Amir Hossein Saeidian, Fatemeh Niaziorimi, Fahimeh Abdollahimajd, Soheila Sotoudeh, Fateme Rajabi, Liaosadat Mirsafaei, Zahra Alizadeh Sani, Lu Liu, Alyson Guy, Sirous Zeinali, Ariana Kariminejad, Reginald T. Ho, John A. McGrath, Jouni Uitto
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Abstract Arrhythmogenic right ventricular cardiomyopathy (ARVC), with skin manifestations, has been associated with mutations in JUP encoding plakoglobin. Genotype–phenotype correlations regarding the penetrance of cardiac involvement, and age of o
Externí odkaz:
https://doaj.org/article/ab057a9d7d3946ec9f202a73bd59378c
Autor:
Amir Hossein Saeidian, Leila Youssefian, Charles Y. Huang, Fahimeh Palizban, Mahtab Naji, Zahra Saffarian, Hamidreza Mahmoudi, Azadeh Goodarzi, Soheila Sotoudeh, Fatemeh Vahidnezhad, Maliheh Amani, Narjes Tavakoli, Ali Ajami, Samaneh Mozafarpoor, Mehrdad Teimoorian, Saeed Dorgaleleh, Sima Shokri, Mohammad Shenagari, Nima Abedi, Sirous Zeinali, Paolo Fortina, Vivien Béziat, Emmanuelle Jouanguy, Jean-Laurent Casanova, Jouni Uitto, Hassan Vahidnezhad
Publikováno v:
JCI Insight, Vol 7, Iss 8 (2022)
Severe viral infections of the skin can occur in patients with inborn errors of immunity (IEI). We report an all-in-one whole-transcriptome sequencing–based method by RNA-Seq on a single skin biopsy for concomitantly identifying the cutaneous virom
Externí odkaz:
https://doaj.org/article/7c4da489857e4de18b1fdb84470b1f82
Autor:
Douglas Ralph, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li
Publikováno v:
PLoS Genetics, Vol 18, Iss 4, p e1010192 (2022)
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a po
Externí odkaz:
https://doaj.org/article/33be5d418ebc4c14bc28e34b680fc2b8