Results 161 to 170 of about 73,290 (250)

Molecular Basis for Activation to Inhibition Switching in Kv7.2 Channel Modulators

Angewandte Chemie, EarlyView.
The paper describes the serendipitous discovery of chemical manipulation allowing the activator‐to‐inhibitor switching in Kv7.2 channel modulators. The molecular determinants driving this switch have been rationalized by multidisciplinary investigation encompassing synthetic and analytical chemistry, in silico methods, cryo‐EM analysis ...
Tania Ciaglia, Giusy Carleo, Zhenni Yang, Francesca Di Matteo, Federica De Rosa, Gerardina Smaldone, Zhao‐Bing Gao, Marco D'Alì, Rita Turcio, Demin Ma, Veronica Di Sarno, Nannan Su, Salvatore Vincenzo Giofrè, Giacomo Pepe, Pietro Campiglia, Alessia Bertamino, Francesco Miceli, Jiangtao Guo, Nunzio Iraci, Carmine Ostacolo, Maurizio Taglialatela   +20 more
wiley   +2 more sources

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

Impact of clonal TP53 mutations with loss of heterozygosity on adjuvant chemotherapy and immunotherapy in gastric cancer. [PDF]

Br J Cancer
Gu Y, Sun M, Fang H, Shao F, Lin C, Liu H, Li H, He H, Li R, Wang J, Zhang H, Xu J.   +11 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation. [PDF]

J Clin Invest
Bohlen J, Bagarić I, Vatovec T, Ogishi M, Ahmed SF, Cederholm A, Buetow L, Sobrino S, Le Floc'h C, Arango-Franco CA, Seabra L, Michelet M, Barzaghi F, Leardini D, Saettini F, Vendemini F, Baccelli F, Catala A, Gambineri E, Veltroni M, Aguilar de la Red Y, Rice GI, Consonni F, Berteloot L, Largeaud L, Conti F, Roullion C, Masson C, Bessot B, Seeleuthner Y, Le Voyer T, Rinchai D, Rosain J, Neehus AL, Erazo-Borrás L, Li H, Janda Z, Cho EJ, Muratore E, Soudée C, Lainé C, Delabesse E, Goulvestre C, Ma CS, Puel A, Tangye SG, André I, Bole-Feysot C, Abel L, Erlacher M, Zhang SY, Béziat V, Lagresle-Peyrou C, Six E, Pasquet M, Alsina L, Aiuti A, Zhang P, Crow YJ, Landegren N, Masetti R, Huang DT, Casanova JL, Bustamante J.   +63 more
europepmc   +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

Determining the Minimal Clinically Important Difference of the 40‐Item Smell Identification Test in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) are highly prevalent among people with cystic fibrosis (PwCF) and negatively impact quality of life. The 40‐item Smell Identification Test (SIT) is widely used to assess psychophysical olfaction, but a CF‐specific minimal clinically important difference (MCID) has not been ...
Eugene Oh, Jessa E. Miller, Michelle J. Lee, Anna Zemke, David Baraghoshi, Matthew J. Strand, Jeremiah A. Alt, Todd E. Bodner, Michael Chang, Naweed I. Chowdhury, Patricia H. Eshaghian, Anne E. Getz, Jennifer L. Goralski, David A. Gudis, Peter H. Hwang, Ashoke Khanwalkar, Adam J. Kimple, Jivianne T. Lee, Douglas A. Li, Jess C. Mace, Jayakar V. Nayak, Jonathan B. Overdevest, Zara Patel, Daniella K. Safatian, Rodney J. Schlosser, Brent Senior, Amanda L. Stapleton, Timothy L. Smith, Zachary M. Soler, Jeffrey D. Suh, Grant A. Turner, Marilene B. Wang, Milene T. Saavedra, Jennifer L. Taylor‐Cousar, Daniel M. Beswick   +34 more
wiley   +1 more source

Loss of heterozygosity for chromosomes 16q in Wilms tumors predicts outcomes: A meta-analysis. [PDF]

World J Gastrointest Oncol
Song YH, Li WL, Yang Z, Gao Y, Feng ZP.
europepmc   +1 more source

KRAS Loss of Heterozygosity Promotes MAPK-Dependent Pancreatic Ductal Adenocarcinoma Initiation and Induces Therapeutic Sensitivity to MEK Inhibition. [PDF]

Cancer Res
Fey SK, Najumudeen AK, Watt DM, Millett LM, Ford CA, Gilroy K, Simpson RJ, McLay K, Upstill-Goddard R, Chang D, Clark W, Nixon C, Birch JL, Barry ST, Morton JP, Campbell AD, Sansom OJ.   +16 more
europepmc   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source