Results 111 to 120 of about 159,640 (258)

Adeno‐associated virus serotype 2 capsid variants for improved liver‐directed gene therapy

Hepatology, EarlyView., 2022
Abstract Background and Aims Current liver‐directed gene therapies look for adeno‐associated virus (AAV) vectors with improved efficacy. With this background, capsid engineering is explored. Whereas shuffled capsid library screenings have resulted in potent liver targeting variants with one first vector in human clinical trials, modifying natural ...
Nadja Meumann, Marti Cabanes‐Creus, Moritz Ertelt, Renina Gale Navarro, Julie Lucifora, Qinggong Yuan, Karin Nien‐Huber, Ahmed Abdelrahman, Xuan‐Khang Vu, Liang Zhang, Ann‐Christin Franke, Christian Schmithals, Albrecht Piiper, Annabelle Vogt, Maria Gonzalez‐Carmona, Jochen T. Frueh, Evelyn Ullrich, Philip Meuleman, Steven R. Talbot, Margarete Odenthal, Michael Ott, Erhard Seifried, Clara T. Schoeder, Joachim Schwäble, Leszek Lisowski, Hildegard Büning   +25 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Janus kinase 2 inhibition by pacritinib as potential therapeutic target for liver fibrosis

Hepatology, EarlyView., 2022
Diagram of the activation of the profibrotic and procontractile Janus kinase 2 (JAK2)/Ras homolog family member A/Rho‐kinase pathway and the inhibition of phosphorylated JAK2 by pacritinib to inhibit hepatic stellate cell activity. Abstract Background and Aims Janus kinase 2 (JAK2) signaling is increased in human and experimental liver fibrosis with ...
Sandra Torres, Cristina Ortiz, Nadine Bachtler, Wenyi Gu, Leon D. Grünewald, Nico Kraus, Robert Schierwagen, Christoph Hieber, Caroline Meier, Olaf Tyc, Maximilian Joseph Brol, Frank Erhard Uschner, Bart Nijmeijer, Christoph Welsch, Marie‐Luise Berres, Carmen Garcia‐Ruiz, Jose Carlos Fernandez‐Checa, Christian Trautwein, Thomas J. Vogl, Stefan Zeuzem, Jonel Trebicka, Sabine Klein   +21 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis

Hepatology, EarlyView., 2022
Interleukin‐18 signaling promotes activation of hepatic stellate cells in mouse liver fibrosis. Abstract Background and Aims Nucleotide‐binding oligomerization domain‐like receptor‐family pyrin domain‐containing 3 (NLRP3) inflammasome activation has been shown to result in liver fibrosis.
Jana Knorr, Benedikt Kaufmann, Maria Eugenia Inzaugarat, Theresa Maria Holtmann, Lukas Geisler, Jana Hundertmark, Marlene Sophia Kohlhepp, Laela M. Boosheri, Daisy R. Chilin‐Fuentes, Amanda Birmingham, Kathleen M. Fisch, Joel D. Schilling, Sven H. Loosen, Christian Trautwein, Christoph Roderburg, Münevver Demir, Frank Tacke, Hal M. Hoffman, Ariel E. Feldstein, Alexander Wree   +19 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Emergence of highly profibrotic and proinflammatory Lrat+Fbln2+ HSC subpopulation in alcoholic hepatitis

Hepatology, EarlyView., 2022
Lrat+ quiescent hepatic stellate cells (qHSC) give rise to Lrat+Fbln2+ activated HSC (aHSC) in alcohol‐associated hepatitis and this subpopulation is highly profibrotic, inflammatory, and immunoregulatory based on their single cell transcriptomic profile. Abstract Background and Aims Relative roles of HSCs and portal fibroblasts in alcoholic hepatitis (
Steven Balog, Reika Fujiwara, Stephanie Q. Pan, Khairat B. El‐Baradie, Hye Yeon Choi, Sonal Sinha, Qihong Yang, Kinji Asahina, Yibu Chen, Meng Li, Matthew Salomon, Stanley W.‐K. Ng, Hidekazu Tsukamoto   +12 more
wiley   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Reply to K. Takada et al.

JTO Clinical and Research Reports, 2021
Madison Ballman, BA, Cristina Mullenix, DNP, FNP-BC, Eva Szabo, MD, Seth M. Steinberg, PhD, Arun Rajan, MD   +4 more
doaj   +1 more source

Prophylactic Enoxaparin Reduces Symptomatic Venous Thromboembolism Compared With No Chemoprophylaxis Within 95 Days After Knee Arthroscopy

Arthroscopy, EarlyView.
Purpose To investigate whether prophylactic use of low‐molecular‐weight heparin (enoxaparin) after knee arthroscopy reduces the incidence of symptomatic venous thromboembolism (VTE) compared with no postoperative pharmacological prophylaxis. Methods We conducted a population‐based cohort study using linked national insurance and hospital data from ...
Aylin Albrecht, Lorenz Kapral, Felix Gruber, Christoph Dibiasi, Oliver Kimberger, Christian Albrecht   +5 more
wiley   +1 more source