Zobrazeno 1 - 10
of 648
pro vyhledávání: '"Novel variants"'
Autor:
Hui Dong, Xue Ma, Zhehui Chen, Huiting Zhang, Jinqing Song, Ying Jin, Mengqiu Li, Mei Lu, Ruxuan He, Yao Zhang, Yanling Yang
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Background and aims To investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succinic semialdehyde dehydrogenase (SSADH) deficiency. Materials and methods This retrospective study evaluated the
Externí odkaz:
https://doaj.org/article/846d3e94ce754f93a905fef29068c85b
Autor:
Sohail Aziz Paracha, Shoaib Nawaz, Muhammad Tahir Sarwar, Asmat Shaheen, Gohar Zaman, Jawad Ahmed, Fahim Shah, Sundus Khwaja, Abid Jan, Nida Khan, Mohammad Azhar Kamal, Qamre Alam, Safdar Abbas, Saman Farman, Ahmed Waqas, Afnan Alkathiri, Abdullah Hamadi, Federico Santoni, Naseeb Ullah, Bisma Khalid, Stylianos E. Antonarakis, Khalid A Fakhro, Muhammad Umair, Muhammad Ansar
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
ObjectiveThis study aims to clinically and genetically assess 30 unrelated consanguineous Pakistani families from various ethnic backgrounds, all exhibiting features of neurodevelopmental disorders (NDDs).MethodsWe conducted clinical, genetic, bioche
Externí odkaz:
https://doaj.org/article/da892fb22a4541a385dabfbb11685b3e
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-8 (2024)
Abstract Background SLCO1B1 plays an important role in mediating hepatic clearance of many different drugs including statins, angiotensin-converting enzyme inhibitors, chemotherapeutic agents and antibiotics. Several variants in SLCO1B1 have been sho
Externí odkaz:
https://doaj.org/article/e20d750a15214f5695d4348aa811f689
Autor:
Hideki Uedono, Katsuhito Mori, Shinya Nakatani, Kohei Watanabe, Rino Nakaya, Fumiyuki Morioka, Kazuma Sone, Chie Ono, Junko Hotta, Akihiro Tsuda, Naoya Morisada, Toshiyuki Seto, Kandai Nozu, Masanori Emoto
Publikováno v:
Case Reports in Nephrology and Dialysis, Vol 14, Iss 1, Pp 1-9 (2024)
Introduction: Alport syndrome (AS) is a hereditary, progressive kidney disease characterized by structural abnormalities and dysfunction of the glomerular basement membrane (GBM). AS is classified as X-linked, autosomal, and digenic. The number of ca
Externí odkaz:
https://doaj.org/article/f5a7078a2df046aa9981ea1649ec053c
Autor:
Elkhansa Elgaali, Massimo Mezzavilla, Ikhlak Ahmed, Mohammed Elanbari, Aesha Ali, Ghada Abdelaziz, Khalid A. Fakhro, Ayman Saleh, Tawfeg Ben-Omran, Naima Almulla, Chiara Cugno
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundFamilial hemophagocytic lymphohistiocytosis (FHLH) is an inherited life-threatening disease. Five types are identified, with the addition of congenital immunodeficiency syndromes in which HLH is a typical manifestation. The literature on th
Externí odkaz:
https://doaj.org/article/01f066007a5d486983169997cf00cb69
Autor:
Angélica Martínez-Hernández, Elvia C. Mendoza-Caamal, Namibia G. Mendiola-Vidal, Francisco Barajas-Olmos, José Rafael Villafan-Bernal, Juan Luis Jiménez-Ruiz, Tulia Monge-Cazares, Humberto García-Ortiz, Cecilia Contreras- Cubas, Federico Centeno-Cruz, Carmen Alaez-Verson, Soraya Ortega-Torres, Adriana del C. Luna-Castañeda, Vicente Baca, José Luis Lezana, Lorena Orozco
Publikováno v:
Heliyon, Vol 10, Iss 7, Pp e28984- (2024)
Background: Molecular diagnosis of cystic fibrosis (CF) is challenging in Mexico due to the population's high genetic heterogeneity. To date, 46 pathogenic variants (PVs) have been reported, yielding a detection rate of 77%. We updated the spectrum a
Externí odkaz:
https://doaj.org/article/ce4c8142ceb54ebeaeeec00442c786a9
Autor:
Danhua Liu, Yongli Zhao, Xia Xue, Xinyue Hou, Hongen Xu, Xinghua Zhao, Yongan Tian, Wenxue Tang, Jiancheng Guo, Changbao Xu
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. Cystinuria can be classified into three forms based on the genoty
Externí odkaz:
https://doaj.org/article/0834b245a04c48adb295dbc8db4d5307
Autor:
Sheng Yi, Xianglian Tang, Qiang Zhang, Yu Liang, Jing Huang, Shujie Zhang, Limei Huang, Shang Yi, Minpan Huang, Zailong Qin, Jingsi Luo
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e27946- (2024)
Background: Autosomal recessive intellectual developmental disorder-3 is caused by homozygous or compound heterozygous mutations in the CC2D1A gene. The disorder is characterized by intellectual disability (ID) and autism spectrum disorder (ASD). To
Externí odkaz:
https://doaj.org/article/d1b5d4d383504436a9974227e10905b8
Autor:
Qi Yang, Qiang Zhang, Sheng Yi, Shujie Zhang, Shang Yi, Xunzhao Zhou, Zailong Qin, Biyan Chen, Jingsi Luo
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Kleefstra syndrome (KLEFS) refers to a rare inherited neurodevelopmental disorder characterized by intellectual disability (ID), language and motor delays, behavioral abnormalities, abnormal facial appearance, and other variable clinical features. KL
Externí odkaz:
https://doaj.org/article/c4612f9c4374459fa8993648021621d1
Publikováno v:
Global Medical Genetics, Vol 10, Iss 03, Pp 247-262 (2023)
The aim of this study was to perform a molecular diagnosis of hemophilia A (HA) among patients in the Shanxi Province of China. Fifty-two HA patients were tested, including IVS22 (31 samples), IVS1 (3 samples), missense (11 samples), nonsense (3 samp
Externí odkaz:
https://doaj.org/article/8b85a7eca3b7459bba3982dbc7e774c6