Zobrazeno 1 - 10
of 38
pro vyhledávání: '"35"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Objective To further comprehend the phenotype of multiple mitochondrial dysfunction syndrome type 3 (MMDS3:OMIM#615330) caused by IBA57 mutation. We present a case involving a patient who experienced acute neurological regression, and the li
Externí odkaz:
https://doaj.org/article/b892e55650e34d7c9b19cd8e6df3f216
Publikováno v:
The Plant Genome, Vol 17, Iss 2, Pp n/a-n/a (2024)
Abstract The gene expression landscape across different tissues and developmental stages reflects their biological functions and evolutionary patterns. Integrative and comprehensive analyses of all transcriptomic data in an organism are instrumental
Externí odkaz:
https://doaj.org/article/bea4faa31a374fe28ae46af1b794e7db
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background The protein kinase domain containing cytoplasmic (PKDCC) gene (OMIM#618821) is associated with bone development. Biallelic variants in the PKDCC gene can cause rhizomelic limb shortening with dysmorphic features. Case Report A fet
Externí odkaz:
https://doaj.org/article/0674b30f836f47a7a658ca96185b954a
Autor:
Karam Mostafa, Bayram Ali Yerlikaya, Mohamed Farah Abdulla, Abdullah Aydin, Seher Yerlikaya, Musa Kavas
Publikováno v:
The Plant Genome, Vol 17, Iss 1, Pp n/a-n/a (2024)
Abstract Changing climatic conditions with rising temperatures and altered precipitation patterns pose significant challenges to agricultural productivity, particularly for common bean crops. Transcription factors (TFs) are crucial regulators that ca
Externí odkaz:
https://doaj.org/article/4ec33f61312c4041b0df9c4679b1f63e
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020)
Abstract Background Retinitis pigmentosa is a heterogeneous group of inherited retinal diseases leading to progressive vision loss. It has been estimated that the etiology is still unclear in 22%‐40% of cases, indicating that many novel pathogenic
Externí odkaz:
https://doaj.org/article/64f6efc6da7c429bb3c512439ceea93b
Autor:
Wei Cui, Xiaoye Jin, Yuxin Guo, Chong Chen, Wenqing Zhang, Tingting Kong, Haotian Meng, Bofeng Zhu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Individual identification is one of the most important tasks in the field of forensic genetics. Insertion/Deletion (InDel) polymorphism marker has been a promising marker for individual identification. However, a part of InDel loc
Externí odkaz:
https://doaj.org/article/2c6f429aca3b48ec9acf42bb5ff64885
Autor:
Chung‐Lin Lee, Hsiang‐Yu Lin, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ru‐Yi Tu, You‐Hsin Huang, Wuh‐Liang Hwu, Fuu‐Jen Tsai, Pao‐Chin Chiu, Dau‐Ming Niu, Yann‐Jang Chen, Mei‐Chyn Chao, Tung‐Ming Chang, Ju‐Li Lin, Chia‐Ying Chang, Yu‐Chia Kao, Shuan‐Pei Lin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Information on functional strengths and weaknesses of mucopolysaccharidosis (MPS) patients is important for early intervention programs and enzyme replacement therapy (ERT). Methods We used the Functional Independence Measure for
Externí odkaz:
https://doaj.org/article/f3646cc5c1dc4090a9d026a7f73a96bb
Publikováno v:
Advanced Genetics, Vol 4, Iss 4, Pp n/a-n/a (2023)
Abstract Deep learning (DL) approaches have the ability to accurately recognize promoter regions and predict their strength. Here, the potential for controllably designing active Escherichia coli promoter is explored by combining multiple deep learni
Externí odkaz:
https://doaj.org/article/c04c899b2c8a44c989c3ab2d13077dab
Autor:
Isaac Bernhardt, Emma Glamuzina, Bryony Ryder, Detlef Knoll, Natasha Heather, Mark De Hora, Dianne Webster, Callum Wilson
Publikováno v:
JIMD Reports, Vol 64, Iss 2, Pp 180-186 (2023)
Abstract Newborn screening (NBS) for classical galactosaemia (CG) facilitates early diagnosis and treatment to prevent life‐threatening complications, but remains controversial, and screening protocols vary widely between programmes. False‐negati
Externí odkaz:
https://doaj.org/article/48ab227de3af4b048a0b3710040f7db9
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
Autor:
Guillaume Cogan, Nicolas Bourgon, Roxana Borghese, Emmanuel Julien, Aurélia Jaquette, Bertrand Stos, Amale Achaiaa, Sophie Chuon, Patrick Nitschke, Cécile Fourrage, Julien Stirnemann, Lucile Boutaud, Tania Attie‐Bitach
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Introduction CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exo
Externí odkaz:
https://doaj.org/article/79a4b3e89846448e9a3d95301ed8bda3