Results 201 to 210 of about 6,270,911 (362)

Unusual maintenance of X chromosome inactivation predisposes female lymphocytes for increased expression from the inactive X

Proceedings of the National Academy of Sciences of the United States of America, 2016
Jianle Wang, C. Syrett, Marianne C. Kramer, Arindam Basu, M. Atchison, M. Anguera   +5 more
semanticscholar   +1 more source

Single‐Cell Analysis Clarifies Pathological Heterogeneity in Tenosynovial Giant Cell Tumor and Identifies Biomarkers for Predicting Disease Recurrence

Advanced Science, EarlyView.
MP3 tumor cells, a specific subpopulation of tumor cells in D‐TGCT, regulated the differentiation of CD34+ Fbs into MMP3+ Fbs and APOE+ Fbs through COL6A3 − (ITGAV + ITGB8) interaction. APOE+ Fbs activated IL‐1B+CCL20+ Mφs through the CXCL12/CXCR4 axis. IL‐1B+CCL20+ Mφs and MMP3+ Fbs participated in the local invasion of D‐TGCT.
Yubin Xie, Chen Chen, Fei Wu, Yiman Peng, Jing Su, Yang Zhao, Hongjie Huang, Zhong Alan Li, Yin Pei, Wencui Li, Yi He, Tianchen Xue, Chenxi Cao, Sui Peng, Xin Zhang, Weidong Song   +15 more
wiley   +1 more source

A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 228-233, January 2023., 2023
Abstract Pulmonary arterial hypertension (PAH) is a disease characterized by pathological remodeling of the pulmonary vasculature causing elevated pulmonary artery pressures and ultimately, right ventricular failure from chronic pressure overload. Heterozygous pathogenic GDF2 (encoding bone morphogenetic protein 9 (BMP9)) variants account for some (>1%)
Paul Upton, Susan Richards, Angela Bates, Karen Y. Niederhoffer, Nicholas W. Morrell, Susan Christian   +5 more
wiley   +1 more source

Defective X-chromosome inactivation and cancer risk in women. [PDF]

Commun Biol
Cáceres A, Pérez-Jurado LA, Alegret-García A, Dwaraka VB, Smith R, González JR.   +5 more
europepmc   +1 more source

Fine structure analysis of a chromosome segment in Drosophila melanogaster analysis of X-ray-induced lethals [PDF]

, 1968
Eliezer Lifschytz, Raphael Falk
openalex   +1 more source

Deletion of DXZ4 on the human inactive X chromosome alters higher-order genome architecture

Proceedings of the National Academy of Sciences of the United States of America, 2016
E. Darrow, M. Huntley, O. Dudchenko, Elena K. Stamenova, Neva C. Durand, Zhuo Sun, Su-Chen Huang, Adrian L. Sanborn, Ido Machol, M. Shamim, Andrew P. Seberg, E. Lander, B. Chadwick, Erez Lieberman Aiden   +13 more
semanticscholar   +1 more source

Model‐Guided Rational Construction of Escherichia coli Synthetic Consortia for Enhanced 2‐Methylbutyric Acid Production

Advanced Science, EarlyView.
We developed a citramalate‐derived pathway for 2‐methylbutyric acid production in E. coli mono‐culture and consortia. The optimized consortium, using 2‐keto‐3‐methylvalerate as a node, achieved 1817.03 ± 103.73 mg L−1 2‐methylbutyric acid, a 28‐fold increase from the initial strain, with a yield of 0.091 g/g glucose.
Yu Liu, Boyuan Xue, Shaojie Wang, Haijia Su   +3 more
wiley   +1 more source

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 135-143, January 2023., 2023
Abstract We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome.
Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer   +30 more
wiley   +1 more source

Evidence for a Novel X Chromosome in Termites. [PDF]

Genome Biol Evol
Fraser R, Moraa R, Djolai A, Meisenheimer N, Laube S, Vicoso B, Huylmans AK.   +6 more
europepmc   +1 more source

THE GENETICS OF ARTEMIA SALINA. V. CROSSING OVER BETWEEN THE X AND Y CHROMOSOMES [PDF]

, 1965
Sarane T. Bowen
openalex   +1 more source