Zobrazeno 1 - 10
of 1 270
pro vyhledávání: '"Mutation spectrum"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Background Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of hereditary diseases caused by the gradual degeneration of the lower motor neuron. More than 30 genes associated with dHMN have been reported, while 70–80% of
Externí odkaz:
https://doaj.org/article/6163b4a315104e9faa98039f5d6089fa
Autor:
Zheng Wang, Anqi Li, Yujie Lu, Mengyuan Han, Miao Ruan, Chaofu Wang, Xiaotian Zhang, Changbin Zhu, Kunwei Shen, Lei Dong, Xiaosong Chen
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
The aim of this study was to evaluate the mutation spectrum of homologous recombination repair (HRR) genes and its association with tumor immune infiltration and prognosis in triple-negative breast cancer (TNBC). TNBC patients (434 patients from Ruij
Externí odkaz:
https://doaj.org/article/13dff633299e40e19debea976c870238
Autor:
Augustin Nzitakera, Jean Bosco Surwumwe, Ella Larissa Ndoricyimpaye, Schifra Uwamungu, Delphine Uwamariya, Felix Manirakiza, Marie Claire Ndayisaba, Gervais Ntakirutimana, Benoit Seminega, Vincent Dusabejambo, Eric Rutaganda, Placide Kamali, François Ngabonziza, Rei Ishikawa, Belson Rugwizangoga, Yuji Iwashita, Hidetaka Yamada, Kimio Yoshimura, Haruhiko Sugimura, Kazuya Shinmura
Publikováno v:
Genes and Environment, Vol 46, Iss 1, Pp 1-16 (2024)
Abstract Background Gastric cancer is the sixth most frequently diagnosed cancer and third in causing cancer-related death globally. The most frequently mutated gene in human cancers is TP53, which plays a pivotal role in cancer initiation and progre
Externí odkaz:
https://doaj.org/article/ec91c9212ec340219232c4764b265bf0
Autor:
Marta Moschetti, Alessia Lo Curto, Miriam Giacomarra, Daniele Francofonte, Carmela Zizzo, Elisa Messina, Giovanni Duro, Paolo Colomba
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 17, p 9139 (2024)
Studying a patient with Pompe disease (PD) is like opening Pandora’s box. The specialist is faced with numerous clinical features similar to those of several diseases, and very often the symptoms are well hidden and none is associated with this rar
Externí odkaz:
https://doaj.org/article/5031d16d6f174e34831a86f4e417536e
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101034- (2024)
Wilson's disease is a complicated medical condition caused by the accumulation of copper, mostly in the liver and brain. The genetic basis of Wilson's disease is attributed to the presence of pathogenic variants in the ATP7B copper-transporting gene,
Externí odkaz:
https://doaj.org/article/77b35654dcdd4cc49b11f86c691e5f8e
Publikováno v:
eLife, Vol 12 (2024)
Maintaining germline genome integrity is essential and enormously complex. Although many proteins are involved in DNA replication, proofreading, and repair, mutator alleles have largely eluded detection in mammals. DNA replication and repair proteins
Externí odkaz:
https://doaj.org/article/00370c14fb404512aa49c1e42bce4479
Autor:
Priyanka Srivastava, Shifali Gupta, Chitra Bamba, Roshan Daniel, Parminder Kaur, Anupriya Kaur, Inusha Panigrahi, Kausik Mandal
Publikováno v:
Heliyon, Vol 10, Iss 1, Pp e23685- (2024)
Background: Neurofibromatosis type 1 (NF1) is a unique, highly penetrant neuro-cutaneous disorder with a wide range of manifestations. Though the clinical diagnosis of NF1 is straight forward, there can be other disorders which mimic NF1, especially
Externí odkaz:
https://doaj.org/article/04423515c8b94c98bee56e3dc3271be9
Autor:
Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani, Jaber Lyahyai
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-17 (2023)
Abstract Background Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders resulting in prenatal or early-onset hypotonia, muscle weakness, myogenic pattern,
Externí odkaz:
https://doaj.org/article/0aac02b2513d4411aa5311dea64c94a8
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Tay-Sachs disease (TSD), an autosomal recessively inherited neurodegenerative lysosomal storage disease, reported worldwide with a high incidence among population of Eastern European and Ashkenazi Jewish descent. Mutations in the
Externí odkaz:
https://doaj.org/article/07cc43a0964048de8ef292b358747207
Autor:
Hiroko Natsume, Kinga Szczepaniak, Hidetaka Yamada, Yuji Iwashita, Marta Gędek, Jelena Šuto, Keiko Ishino, Rika Kasajima, Tomonari Matsuda, Felix Manirakiza, Augustin Nzitakera, Yijia Wu, Nong Xiao, Qiong He, Wenwen Guo, Zhenming Cai, Tsutomu Ohta, Tıberiu Szekely, Zoltan Kadar, Akiko Sekiyama, Takashi Oshima, Takaki Yoshikawa, Akira Tsuburaya, Nobuhito Kurono, Yaping Wang, Yohei Miyagi, Simona Gurzu, Haruhiko Sugimura
Publikováno v:
Genes and Environment, Vol 45, Iss 1, Pp 1-13 (2023)
Abstract Aim Mutation spectrum of TP53 in gastric cancer (GC) has been investigated world-widely, but a comparison of mutation spectrum among GCs from various regions in the world are still sparsely documented. In order to identify the difference of
Externí odkaz:
https://doaj.org/article/cbf4ee58a8bd45a5ab90f396841a9a36