Results 21 to 30 of about 616,961 (234)

Molecular mechanism of androgen receptor mutation in multigenerational mild androgen insensitivity syndrome

Endocrine Connections
Objective: Androgen insensitivity syndrome (AIS) due to androgen receptor (AR) mutations creates a spectrum of clinical presentations based on residual AR function with the mildest impairment creating mild AIS (MAIS) whose undefined molecular mechanism ...
Ravind Pandher, Ruby Chang, Yiqun Chang, David E Hibbs, Jonathan J Du, Kristine McGrath, Alison Heather, Veena Jayadev, David J Handelsman   +8 more
doaj   +1 more source

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations

iScience, 2021
Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun K. Krishnan, Rebecca Sheplock, Sanford L. Boye, Alexander M. Dizhoor, Shannon E. Boye   +12 more
doaj   +1 more source

Human variation in population-wide gene expression data predicts gene perturbation phenotype

iScience, 2022
Summary: Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function “in ...
Lorenzo Bonaguro, Jonas Schulte-Schrepping, Caterina Carraro, Laura L. Sun, Benedikt Reiz, Ioanna Gemünd, Adem Saglam, Souad Rahmouni, Michel Georges, Peer Arts, Alexander Hoischen, Leo A.B. Joosten, Frank L. van de Veerdonk, Mihai G. Netea, Kristian Händler, Sach Mukherjee, Thomas Ulas, Joachim L. Schultze, Anna C. Aschenbrenner   +18 more
doaj   +1 more source

The HIT Network for Children and Adolescents With CNS Tumors Facilitates Improvements of Diagnostic Assessments, Multimodal Treatments, Individual Counseling, and Research in Germany, Austria, and Switzerland

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The HIT network was established in 2000 to create a population‐based structure aiming to improve survival rates and reduce late effects for children with central nervous system (CNS) tumors by conducting comprehensive clinical trials.
Stefan Rutkowski, Michael C. Frühwald, Gudrun Fleischhack, Stephan Tippelt, Pablo Hernáiz‐Driever, Olaf Witt, Astrid Gnekow, Christof Kramm, Matthias Eyrich, Johannes E. A. Wolf, Hermann Müller, Carsten Friedrich, Uwe R. Kordes, Denise Obrecht‐Sturm, Petra Ketteler, Barbara von Zezschwitz, Pascal Johann, Dominik Sturm, Karoline Nemes, Stefan Schönberger, Till Milde, Brigitte Bison, Monika Warmuth‐Metz, Torsten Pietsch, Ulrich Schüller, Arend Koch, David Capper, Martin Hasselblatt, Christian Thomas, Christian Hagel, Stefan M. Pfister, Felix Sahm, David T. W. Jones, Martin U. Schuhmann, Jürgen Krauss, Pedram Emami, Ahmed El Damaty, Rolf D. Kortmann, Rudolf Schwarz, Jürgen Debus, Mechthild Krause, Fabian Pohl, Holger Ottensmeier, Lisa Bußenius, Katja Baust, Andreas Faldum, Cecile Ronckers, Desiree Grabow, Martin Benesch, Thomas Perwein, Karin Dieckmann, Irene Slavc, Johannes Gojo, Nicolas U. Gerber, André O. von Bueren, Katrin Scheinemann, Gabriele Calaminus, Beate Timmermann, Ulrich‐Wilhelm Thomale, Martin Mynarek   +59 more
wiley   +1 more source

Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms

iScience, 2022
Summary: We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function.
Samuel Mathieu, Mewen Briend, Erik Abner, Christian Couture, Zhonglin Li, Yohan Bossé, Sébastien Thériault, Tõnu Esko, Benoit J. Arsenault, Patrick Mathieu   +9 more
doaj   +1 more source

Stressful Events Reported by Childhood Cancer Survivors and Community Controls From the St. Jude Lifetime (SJLIFE) Cohort: A Mixed Method Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Characterizing stressful events reported by childhood cancer survivors experienced throughout the lifespan may help improve trauma‐informed care relevant to the survivor experience. Methods Participants included 2552 survivors (54% female; 34 years of age) and 469 community controls (62% female; 33 years of age) from the St.
Megan E. Ware, Colter K. Clayton, Fang Wang, Sedigheh Mirzaei, Kyla Shelton, Tara M. Brinkman, Victoria Willard, Katianne M. Howard Sharp, Kevin Krull, Lindsay F. Schwartz, Melissa M. Hudson, Gregory T. Armstrong, Kirsten K. Ness, Rachel T. Webster   +13 more
wiley   +1 more source

Utility of Computed Tomography Surveillance of Asymptomatic Infection in Children and Young Adults Before Allogeneic Hematopoietic Stem Cell Transplant

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Asymptomatic infection poses a significant risk for children undergoing hematopoietic stem cell transplantation (HSCT). Pre‐transplant surveillance computed tomography (CT) is commonly used to identify occult infection, though its diagnostic yield remains uncertain.
Tyler Obermark, Pradipta Debnath, Rama S. Ayyala, Lara A. Danziger‐Isakov, Jane Koo, Kasiani C. Myers, William R. Otto, Aki Tanimoto, Andrew T. Trout, Cara E. Morin   +9 more
wiley   +1 more source

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant

Frontiers in Pediatrics
This case report presents two Ecuadorian patients with Rothmund-Thomson syndrome type 2 (RTS2), an autosomal recessive disorder, who share a RECQL4 variant previously identified in another Ecuadorian patient, supporting the recurrent presence of this ...
Martina Isabella Armas Samaniego, Mateo Briones Vasquez, Mel Mariño Zambrano, Vanessa I. Romero, Vanessa I. Romero, Karen Melo, Juan Carlos Pozo-Palacios   +6 more
doaj   +1 more source

Genetics and genomic medicine in Sri Lanka

Molecular Genetics & Genomic Medicine, 2019
The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics‐based translational medicine mainly in the developed world. However, the development of
Nirmala D. Sirisena, Vajira H. W. Dissanayake   +1 more
doaj   +1 more source

New variants of ABCA12 in harlequin ichthyosis baby

Journal of Pediatric and Neonatal Individualized Medicine, 2018
Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma.
Sara Peixoto, Joana Amaral, Dolores Faria, Cristina Resende, Gabriela Mimoso, Lina Ramos   +5 more
doaj   +1 more source