Results 201 to 210 of about 2,076 (266)

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

Effect of rhGH treatment on lipidome and brown fat activity in prepuberal small for gestational age children: a pilot study. [PDF]

Sci Rep
González L, Gonzalez-Riano C, Fernández-García P, Cereijo R, Valls A, Soria-Gondek A, Real N, Requena B, Bel-Comos J, Corrales P, Jiménez-Pavón D, Barbas C, Villarroya F, Sánchez-Infantes D, Murillo M.   +14 more
europepmc   +1 more source

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

American Journal of Medical Genetics Part A, EarlyView.
Nicholas A. Borja, Mustafa Tekin
wiley   +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

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

Composite Films Based on Linear Polyethyleneimine Polymer and Starch or Polysaccharides from DDGS: Synthesis, Characterization, and Antimicrobial Studies. [PDF]

Polymers (Basel)
Galaburri G, Infantes-Molina A, Melian Queirolo CM, Mebert A, Tuttolomondo MV, Rodríguez-Castellón E, Lázaro-Martínez JM.   +6 more
europepmc   +1 more source

[Initiation of breastfeeding and skin-to-skin contact in Latin American countries]. [PDF]

Aten Primaria
Gutiérrez-Fragoso K, Sampieri CL.
europepmc   +1 more source

Interleukin-16 is increased in obesity and alters adipogenesis and inflammation <i>in vitro</i>. [PDF]

Front Endocrinol (Lausanne)
Reyes-Farias M, Fernández-García P, Corrales P, González L, Soria-Gondek A, Martínez E, Pellitero S, Tarascó J, Moreno P, Sumoy L, Medina-Gómez G, Sánchez-Infantes D, Herrero L.   +12 more
europepmc   +1 more source

Editorial for the Special Issue "Functionalized Gels for Environmental Applications 2nd Edition". [PDF]

Gels
Burratti L, Venditti I, Prosposito P.
europepmc   +1 more source