Results 141 to 150 of about 196,851 (322)

Systematic Metabolic Engineering and Model‐Guided Optimization for High‐Level Production of L‐Theanine From Xylose in Escherichia Coli

Advanced Science, EarlyView.
This study is pioneering in constructing the shortest known synthetic pathway for L‐theanine production from xylose within E coli. Through comprehensive metabolic engineering strategies, our engineered strain achieved the highest reported L‐theanine titer from xylose, with a titer of 95.42 g/L, and a yield of 0.55 g/g.
Haolin Han, Boyuan Xue, Guangqi Shan, Meng Meng, Shaojie Wang, Haijia Su   +5 more
wiley   +1 more source

X chromosome inactivation: new players in the initiation of gene silencing [PDF]

, 2017
Inês Pinheiro, Édith Heard
openalex   +1 more source

Escaping But Not the Inactive X-Linked Protein Complex Coding Genes May Achieve X-Chromosome Dosage Compensation and Underlie X Chromosome Inactivation-Related Diseases

, 2022
Zhihao Xing, Yuchao Zhang, Meng Wang, Weiwei Xiao, Chunqing Zhu, Songhui Zhao, Yufei Zhu, Landian Hu, Xiangyin Kong   +8 more
openalex   +1 more source

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko, Katerina Hirschfeldova, Pavlina Capkova, Roman Solc   +3 more
wiley   +1 more source

RNA polymerase II depletion from the inactive X chromosome territory is not mediated by physical compartmentalization [PDF]

, 2021
Samuel Collombet, Isabell Rall, Claire Dugast‐Darzacq, Alec Heckert, Aliaksandr Halavatyi, Agnès Le Saux, Gina M. Dailey, Xavier Darzacq, Édith Heard   +8 more
openalex   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Dynamic allele usage of X-linked genes ameliorates neurodevelopmental disease phenotypes in brain organoids

Nature Communications
While random X-chromosome inactivation in female cells of placental mammals silences one allele of the majority of X-chromosomal genes, a considerable fraction is only incompletely and variably inactivated.
M. Bertin, H. Todorov, S. Frank, S. Käseberg, R. Menon, E. Gabassi, C. Foerster, N. Bobon, F. Furlanetto, A. Soliman, H. M. B. Ibrahim, V. Engelhardt, L. Birschmann, H. Brennenstuhl, B. Lohrer, A. Mas-Sanchez, E. Cesare, J. Winter, J. Krummeich, J. Winkler, B. Winner, E. Weis, S. Diederich, K. Luck, P. Lunt, S. Gerber, P. Baumann, N. Elvassore, B. Berninger, MF Basilicata, S. Schweiger, S. Falk, M. Karow   +32 more
doaj   +1 more source

Late Replication of the Inactive X Chromosome Is Independent of the Compactness of Chromosome Territory in Human Pluripotent Stem Cells

, 2013
Alexandra V. Panova, Е. Д. Некрасов, Maria A. Lagarkova, С. Л. Киселев, Alexandra N. Bogomazova   +4 more
openalex   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Escape from X chromosome inactivation is an intrinsic property of the Jarid1c locus

, 2008
Nan Li, Laura Carrel
openalex   +1 more source