Article
Multidisciplinary Sciences
Diane Hu, Ralph S. Marcucio
Summary: Using avian embryo as a model system allows direct assessment of tissue effects and interactions, contributing to understanding vertebrate development. Signals from the forebrain regulate the shape of SHH expression domain in the Frontonasal Ectodermal Zone (FEZ), impacting facial morphogenesis.
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2021)
Article
Biochemistry & Molecular Biology
Yue Yu, Xinjie Li, Rui Jiao, Yang Lu, Xuan Jiang, Xin Li
Summary: The transition of H3K27me3 to H3K4me1 at bivalent promoters plays a crucial role in lineage differentiation by regulating tissue-specific gene expression. LSD1 interacts with PRC2 and contributes to this transition.
CELL AND BIOSCIENCE
(2023)
Article
Biology
Eric Van Otterloo, Isaac Milanda, Hamish Pike, Jamie A. Thompson, Hong Li, Kenneth L. Jones, Trevor Williams
Summary: The facial surface ectoderm plays a vital role in the development of cranial neural crest cell populations by providing signals for growth, patterning, and morphogenesis. This study shows that two members of the AP-2 transcription factor family, AP-2 alpha and AP-2ss, are important for normal craniofacial development and signaling. The loss of these transcription factors leads to clefts in the upper face and mandible, as well as fusion of the upper and lower jaws in the hinge region.
Article
Genetics & Heredity
Marco Fabiani, Francesco Libotte, Katia Margiotti, Dina Khader Issa Tannous, Davide Sparacino, Maria Pia D'Aleo, Francesca Monaco, Claudio Dello Russo, Alvaro Mesoraca, Claudio Giorlandino
Summary: Agnathia-otocephaly complex (AOC) is a rare and usually lethal malformation characterized by mandibular hypoplasia, ear displacement, ear fusion, small oral aperture, and more. Its etiology can be genetic or teratogenic, and certain genes such as OTX2 and PRRX1 have been linked to this condition. This article presents a case of severe AOC in a fetus with a novel deletion mutation in the OTX2 gene.
Article
Peripheral Vascular Disease
Xixiang Tang, Joshua J. Wang, Jinli Wang, Hanna E. Abboud, Yanming Chen, Sarah X. Zhang
Summary: Nox4, a major isoform of NADPH oxidases, plays a crucial role in retinal vascular development and pathological angiogenesis by regulating VEGF/VEGFR2 and angiopoietin-2/integrin alpha V/ERK pathways. Targeting endothelial Nox4 in ischemic/hypoxic retinal diseases should be approached with caution.
Article
Biology
Esther Stroo, Leen Janssen, Olga Sin, Wytse Hogewerf, Mirjam Koster, Liesbeth Harkema, Sameh A. Youssef, Natalie Beschorner, Anouk H. G. Wolters, Bjorn Bakker, Lore Becker, Lilian Garrett, Susan Marschall, Sabine M. Hoelter, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabe de Angelis, Amanth Thathiah, Floris Foijer, Bart van de Sluis, Jan van Deursen, Matthias Jucker, Alain de Brun, Ellen A. A. Nollen
Summary: In age-related neurodegenerative diseases, disease-specific proteins form amyloid-like deposits. Depletion of SERF proteins can ameliorate this process. However, it is unknown whether SERF modifies amyloid pathology in mammalian brain.
LIFE SCIENCE ALLIANCE
(2023)
Article
Reproductive Biology
Hsiu-Lin Huang, Hsiao-Lung Liu, Yu -Shin Cheng
Summary: In this study, differential gene expression analysis was conducted to compare high and low fertility groups of ducks, and otx2 was identified as a gene with significantly different expression levels. The reproductive performance of female ducks was recorded to investigate the relationship between genotypes and phenotypes. Novel single-nucleotide polymorphisms were discovered in the otx2 gene, and the g.366T > C genotype was found to be associated with high fertility in ducks.
Article
Genetics & Heredity
Daniel Quiat, Andrew T. Timberlake, Justin J. Curran, Michael L. Cunningham, Barbara McDonough, Maria A. Artunduaga, Steven R. DePalma, Milagros M. Duenas-Roque, Joshua M. Gorham, Jonas A. Gustafson, Usama Hamdan, Anne V. Hing, Paula Hurtado-Villa, Yamileth Nicolau, Gabriel Osorno, Harry Pachajoa, Gloria L. Porras-Hurtado, Lourdes Quintanilla-Dieck, Luis Serrano, Melissa Tumblin, Ignacio Zarante, Daniela V. Luquetti, Roland D. Eavey, Carrie L. Heike, Jonathan G. Seidman, Christine E. Seidman
Summary: This study identified damaging variants in the FOXI3 gene as a genetic cause of craniofacial microsomia (CFM). Missense variants in the nuclear localization sequence were found to affect the subcellular localization of FOXI3. The study concluded that damaging variants in FOXI3 account for approximately 13% of familial cases and 1% of all cases of CFM.
GENETICS IN MEDICINE
(2023)
Article
Developmental Biology
Andre L. P. Tavares, Karyn Jourdeuil, Karen M. Neilson, Himani D. Majumdar, Sally A. Moody
Summary: The research identified that Sobp may interact with Six1 and play a crucial role in vertebrate craniofacial development. Sobp interferes with transcriptional activation of Six1+Eya1 target genes and altering Sobp levels in Xenopus embryos disrupts otic vesicle development and causes craniofacial cartilage defects. These findings suggest that Sobp modifies Six1 function and is a potential candidate gene for BOR.
Article
Biochemistry & Molecular Biology
Wei Jin, Yi He, Tuo Li, Fei Long, Xin Qin, Yuan Yuan, Ge Gao, Hosen Md Shakhawat, Xinguang Liu, Guoxiang Jin, Zhongjun Zhou
Summary: The study established an efficient method for deriving MSCs from both human iPSCs and ESCs, which showed high tri-lineage differentiation potential and transcriptional similarity to primary MSCs derived from bone marrow. This method could be potentially used for disease modeling and clinical applications, as demonstrated in generating MSCs from patients with Hutchinson-Gilford progeria syndrome and mutation-rectified cells.
CELL AND BIOSCIENCE
(2022)
Article
Cell Biology
Chunyue Geoffrey Lau, Huiqi Zhang, Venkatesh N. Murthy
Summary: The deletion of the BDNF receptor TrkB in PV interneurons in the mouse olfactory cortex impairs multiple aspects of PV neuronal function, leading to aberrant spiking patterns in principal neurons and a paradoxical decrease in overall excitability in cortical circuits. This study demonstrates the critical role of TrkB in shaping the evoked pattern of activity in a cortical network by modulating PV circuit plasticity and development.
JOURNAL OF CELLULAR PHYSIOLOGY
(2022)
Review
Endocrinology & Metabolism
Yehan Bian, Heidi Hahn, Anja Uhmann
Summary: Hedgehog signaling plays essential roles in embryonic development, adult homeostasis, and tumorigenesis. Despite its close connection with pituitary embryonic development, the engagement of Hedgehog signaling in the pituitary gland has been underestimated. Dysfunction of this signaling pathway during pituitary development leads to gland malformation. Recent research also suggests a regulatory role of Hedgehog signaling in the adult pituitary, affecting homeostasis, hormone production, and possibly formation of neoplasms. Targeting this pathway with therapeutic strategies shows promise in treating pituitary diseases.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Neurosciences
Shakti Gupta, Lucia Dutan Polit, Michael Fitzgerald, Helen A. Rowland, Divya Murali, Noel J. Buckley, Shankar Subramaniam
Summary: Neural induction of human induced pluripotent stem cells involves the loss of pluripotency and the commitment to a neural lineage. This study analyzed the transcriptome of human iPSCs undergoing neural induction and identified functional modules involved in pluripotency loss, gain of neural identity, cell cycle, metabolism, cell fate commitment, genome integrity, stress response, and lineage specification. OTX2 was found to have a diverse role in neural induction and regulate processes such as protein remodeling, RNA splicing, and RNA processing. Inhibition of OTX2 accelerated pluripotency loss and disrupted neural induction.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2023)
Article
Endocrinology & Metabolism
Dongxu Qiu, David Nikita, Lei Zhang, Jun Deng, Zhiwei Xia, Junkun Zhan, Jiabing Huang, Lanzhi Liu, Fan Liu, Jingfeng Duan, Jing Li
Summary: This study revealed the crucial role of ICAM-1 in the repair process of aging diabetic population, with ICAM-1 deletion leading to delayed repair, altered microbiota composition, impaired neutrophil activity, and enhanced inflammatory response.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2021)
Article
Reproductive Biology
Hailing Li, Chunhuan Ren, Juntai Lu, Shuangshuang Xu, Xinbao Gong, Wei Zhang, Xu Yan, Jing Ye, Ping Qin, Ya Liu, Yunsheng Li, Yunhai Zhang, Fugui Fang
Summary: This study investigated the role of lncRNA Meg3 in the onset of puberty in female rats. The results showed that Meg3 expression varied during prepuberty and puberty in the ovary. Knockdown of Meg3 affected the expression of puberty-related genes and Wnt/β-catenin proteins in the hypothalamus, delaying the onset of puberty in female rats. Meg3 knockdown also influenced the levels of reproductive genes and hormones, as well as the morphology of the ovaries.
Article
Endocrinology & Metabolism
Qing Fang, Anna Flavia Figueredo Benedetti, Qianyi Ma, Louise Gregory, Jun Z. Li, Mehul Dattani, Abdollah Sadeghi-Nejad, Ivo J. P. Arnhold, Berenice Bilharinho Mendonca, Sally A. Camper, Luciani R. Carvalho
CLINICAL ENDOCRINOLOGY
(2016)
Article
Cell Biology
Leonard Y. M. Cheung, Hideyuki Okano, Sally A. Camper
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2017)
Article
Cell Biology
Leonard Y. M. Cheung, Shannon W. Davis, Michelle L. Brinkmeier, Sally A. Camper, Maria Ines Perez-Millan
MOLECULAR AND CELLULAR ENDOCRINOLOGY
(2017)
Article
Biochemistry & Molecular Biology
Salsabiel El Nagar, Frederique Zindy, Charlotte Moens, Luc Martin, Damien Plassard, Martine F. Roussel, Thomas Lamonerie, Nathalie Billon
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2018)
Article
Anatomy & Morphology
Nuria Ruiz-Reig, Belen Andres, Thomas Lamonerie, Thomas Theil, Alfonso Fairen, Michele Studer
BRAIN STRUCTURE & FUNCTION
(2018)
Article
Oncology
Salsabiel El Nagar, Almandi Chakroun, Coralie Le Greneur, Dominique Figarella-Branger, Thomas Di Meglio, Thomas Lamonerie, Nathalie Billon
Article
Neurosciences
Nuria Ruiz-Reig, Malalaniaina Rakotobe, Ingrid Bethus, Gwenaelle Le Menn, Hannah-Isadora Huditz, Helene Marie, Thomas Lamonerie, Fabien D'Autreaux
JOURNAL OF NEUROSCIENCE
(2019)
Article
Developmental Biology
Md. Riaj Mahamud, Xin Geng, Yen-Chun Ho, Boksik Cha, Yuenhee Kim, Jing Ma, Lijuan Chen, Greggory Myers, Sally Camper, Debbie Mustacich, Marlys Witte, Dongwon Choi, Young-Kwon Hong, Hong Chen, Gaurav Varshney, James Douglas Engel, Shusheng Wang, Tae-Hoon Kim, Kim-Chew Lim, R. Sathish Srinivasan
Article
Endocrinology & Metabolism
Leonard Y. M. Cheung, Sally A. Camper
Article
Neurosciences
Raoul Torero Ibad, Bilal Mazhar, Clementine Vincent, Clemence Bernard, Julie Degardin, Manuel Simonutti, Thomas Lamonerie, Ariel A. Di Nardo, Alain Prochiantz, Kenneth L. Moya
Article
Biology
Alexandre Z. Daly, Lindsey A. Dudley, Michael T. Peel, Stephen A. Liebhaber, Stephen C. J. Parker, Sally A. Camper
Summary: This study identified transcription factors and epigenomic changes associated with the differentiation of POU1F1-expressing progenitors into thyrotropes. POU1F1 binding sites were found to be associated with different classes of transcription factors in different cell lines, indicating unique regulatory mechanisms. The results provide valuable insights into pituitary development and disease pathogenesis.
Article
Biochemistry & Molecular Biology
Hironori Bando, Michelle L. Brinkmeier, Frederic Castinetti, Qing Fang, Mi-Sun Lee, Alexandru Saveanu, Frederique Albarel, Clementine Dupuis, Thierry Brue, Sally A. Camper
Summary: Congenital hypopituitarism is a genetically heterogeneous condition that may be associated with holoprosencephaly. This study identified rare genetic variants in SIX3 and POU1F1 as the cause of neonatal hypopituitarism in two children. Mouse models were used to investigate the mechanism, and it was found that both SIX3 and POU1F1 are required for normal pituitary development. The findings suggest the possibility of a digenic basis for pituitary diseases.
HUMAN MOLECULAR GENETICS
(2023)
Article
Endocrinology & Metabolism
Amanda H. Winningham, Sally A. Camper
Summary: Epithelial to mesenchymal transition (EMT) plays a crucial role in the development of organs, wound healing, fibrosis, and cancer. The study focused on the genetic hierarchy and signaling pathways involved in the EMT process of pituitary stem cells. It was found that Prop1 mutant stem cells showed altered gene expression, including reduced BMP and TGF-beta family gene expression and elevated Elf5 expression. Manipulating gene expression confirmed that the EMT inducer Zeb2 is necessary for BMP signaling and repression of Elf5. Overall, the study established the genetic hierarchy and pathways involved in the transition of pituitary stem cells.
Article
Endocrinology & Metabolism
Ken Ho, Maria Fleseriu, Ursula Kaiser, Roberto Salvatori, Thierry Brue, M. Beatriz Lopes, Pamela Kunz, Mark Molitch, Sally A. Camper, Monica Gadelha, Luis Syro, Edward Laws, Martin Reincke, Hiroshi Nishioka, Ashley Grossman, Ariel Barkan, Felipe Casanueva, John Wass, Adam Mamelak, Laurence Katznelson, Aart J. van der Lely, Sally Radovick, Martin Bidlingmaier, Margaret Boguszewski, Jens Bollerslev, Andrew R. Hoffman, Nelson Oyesiku, Gerald Raverot, Anat Ben-Shlomo, Rob Fowkes, Ilan Shimon, Hidenori Fukuoka, Alberto M. Pereira, Yona Greenman, Anthony P. Heaney, Mark Gurnell, Gudmundur Johannsson, Robert Y. Osamura, Michael Buchfelder, Maria Chiara Zatelli, Marta Korbonits, Philippe Chanson, Nienke Biermasz, David R. Clemmons, Niki Karavitaki, Marcello D. Bronstein, Peter Trainer, Shlomo Melmed
Summary: The debate over renaming pituitary neoplasms as PitNETs has sparked concerns among stakeholder groups. Experts recommend retaining the term adenoma and revisiting the topic as new evidence on pituitary neoplasm biology emerges.
JOURNAL OF THE ENDOCRINE SOCIETY
(2021)
Article
Medicine, Research & Experimental
Michelle L. Brinkmeier, Hironori Bando, Adriana C. Camarano, Shingo Fujio, Koji Yoshimoto, Flavio S. J. de Souza, Sally A. Camper
JOURNAL OF CLINICAL INVESTIGATION
(2020)