Zobrazeno 1 - 10
of 62
pro vyhledávání: '"Fulya, Taylan"'
Autor:
Elizabeth Emma Palmer, Helene Cederroth, Mikk Cederroth, Angelica Maria Delgado-Vega, Natalie Roberts, Fulya Taylan, Ann Nordgren, Lorenzo D. Botto
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-7 (2024)
Abstract Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are especially steep for those from
Externí odkaz:
https://doaj.org/article/9b92d41d8a6c46049490babb179131fb
Uncommon Variants in FLG2 and NOD2 Are Associated with Atopic Dermatitis in the Ethiopian Population
Autor:
Sailan Wang, Julia K. Elmgren, Jesper Eisfeldt, Samina Asad, Marlene Ek, Kassahun Bilcha, Annisa Befekadu, Carl-Fredrik Wahlgren, Magnus Nordenskjöld, Fulya Taylan, Isabel Tapia-Paez, Maria Bradley
Publikováno v:
JID Innovations, Vol 4, Iss 4, Pp 100284- (2024)
Loss-of-function variants in the FLG gene have been identified as the strongest cause of susceptibility to atopic dermatitis (AD) in Europeans and Asians. However, very little is known about the genetic etiology behind AD in African populations, wher
Externí odkaz:
https://doaj.org/article/75bdc359543b4bccb2e07264566ac53b
Autor:
Sailan Wang, Pernilla Nikamo, Leena Laasonen, Bjorn Gudbjornsson, Leif Ejstrup, Lars Iversen, Ulla Lindqvist, Jessica J Alm, Jesper Eisfeldt, Xiaowei Zheng, Sergiu-Bogdan Catrina, Fulya Taylan, Raquel Vaz, Mona Ståhle, Isabel Tapia-Paez
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 3, Pp 596-615 (2024)
Abstract Psoriatic arthritis mutilans (PAM) is the rarest and most severe form of psoriatic arthritis, characterized by erosions of the small joints and osteolysis leading to joint disruption. Despite its severity, the underlying mechanisms are unkno
Externí odkaz:
https://doaj.org/article/d7a494fdd8c144ae87005d0481ad98df
Autor:
Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren, William Gahl, Elizabeth Emma Palmer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-15 (2023)
Abstract Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases, integrating research and clinical care to optimize diagnostic outcomes.
Externí odkaz:
https://doaj.org/article/2c3c80d58dd945c1b647c7d3b1dfd30b
Autor:
Carolina Maya-González, Sandra Wessman, Kristina Lagerstedt-Robinson, Fulya Taylan, Bianca Tesi, Ekaterina Kuchinskaya, W. Glenn McCluggage, Anna Poluha, Stefan Holm, Ricard Nergårdh, Teresita Díaz De Ståhl, Charlotte Höybye, Giorgio Tettamanti, Angelica Maria Delgado-Vega, Anna Skarin Nordenvall, Ann Nordgren
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Prader-Willi syndrome (PWS) is a rare disease caused by a lack of expression of inherited imprinted genes in the paternally derived Prader-Willi critical region on chromosome 15q11.2-q13. It is characterized by poor feeding and hypotonia in infancy,
Externí odkaz:
https://doaj.org/article/4621862bc38343c7ac090d169ff55210
Autor:
Mari Muurinen, Fulya Taylan, Symeon Tournis, Jesper Eisfeldt, Alexia Balanika, Heleni Vastardis, Sirpa Ala‐Mello, Outi Mäkitie, Alice Costantini
Publikováno v:
JBMR Plus, Vol 6, Iss 8, Pp n/a-n/a (2022)
ABSTRACT Mosaicism, a state in which an individual has two or more genetically distinct populations of cells in the body, can be difficult to detect because of either mild or atypical clinical presentation and limitations in the commonly used detecti
Externí odkaz:
https://doaj.org/article/446d71556eb24c9ba700457e1852fe62
Autor:
Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, Anna Lindstrand, Nina Jäntti, Helena Malmgren, Kristina Lagerstedt‐Robinson, Bianca Tesi, Fulya Taylan, Ann Nordgren
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Background De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur pre‐zygotically in parental germ cells, the recurrence risk might be higher. S
Externí odkaz:
https://doaj.org/article/d92f1dcc8f8747edad52176180df7ee1
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by an increased tendency for fractures throughout life. Autosomal dominant (AD) mutations in COL1A1 and COL1A2 are causative in approximately
Externí odkaz:
https://doaj.org/article/b3f74a87cb05479faea9c91fdaf690bc
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Skeletal dysplasias are often well characterized, and only a minority of the cases remain unsolved after a thorough analysis of pathogenic variants in over 400 genes that are presently known to cause monogenic skeletal diseases. Here, we describe an
Externí odkaz:
https://doaj.org/article/319cf6a4869c4f70a1bd0ccf87e67bf4
Autor:
Tekla Järviaho, Benedicte Bang, Vasilios Zachariadis, Fulya Taylan, Jukka Moilanen, Merja Möttönen, C.I. Edvard Smith, Arja Harila-Saari, Riitta Niinimäki, Ann Nordgren
Publikováno v:
Blood Advances, Vol 3, Iss 18, Pp 2722-2731 (2019)
Pathogenic germline variants in ETV6 have been associated with familial predisposition to thrombocytopenia and hematological malignancies, predominantly childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL). In addition, overrepresentatio
Externí odkaz:
https://doaj.org/article/b83f8f0bce164e16b7b1d2a0966f7ea8