Results 121 to 130 of about 304,644 (263)

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

Fertility management and outcomes after CAR T-cell therapy: an international survey from the Cellular Therapy and Immunobiology working party of the European Society for Blood and Marrow Transplantation. [PDF]

EClinicalMedicine
Orofino G, Sánchez-Ortega I, Mota JS, Aroldi A, Castilla-Llorente C, Bigenwald C, Dalle JH, Yacouben K, Di Blasi R, Galli E, Grandage V, Palasciano A, Bacon L, Franke GN, Fandrei D, Merz M, George L, Lopez-Corral L, Hecker JS, Mannina D, Bramanti S, Martin Gonzalez JA, Martínez-Cibrian N, Petersen SL, Polgarova K, Protheroe R, Richardson D, Ram R, Elias S, von Tresckow B, Stölzel F, Streiss I, Vallet N, Knippenberg J, Tomas AA, Pagliuca S, Malard F, Kuball J, Ruggeri A.   +38 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Evaluation of therapeutic effects of D‐limonene following orchiopexy in the rat model of cryptorchidism

Animal Models and Experimental Medicine, EarlyView.
D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala, Mohammadjavad Rezaei‐Varmaziar, Majid Taati, Ali Soleimanzadeh, Abbas Raisi, Farshid Davoodi, Amir Ali Shahbazfar   +6 more
wiley   +1 more source

Normal Ovarian Reserve During Long-Term Osimertinib Therapy in a Patient With Li-Fraumeni Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Salih SM, Atmakuri A, Elsarrag SZ, Schwartz LF.   +3 more
europepmc   +1 more source

Stabilization of PUFA‐Rich Mayonnaise Against Lipid Oxidation: A Review of the Last Three Decades of Research

Journal of the American Oil Chemists' Society, EarlyView.
ABSTRACT Mayonnaise, a widely consumed oil‐in‐water emulsion, is highly susceptible to lipid oxidation due to its high content of polyunsaturated fatty acids (PUFAs) and the presence of pro‐oxidant factors such as low pH and iron from egg yolk. Over the past three decades, extensive research has focused on understanding oxidation mechanisms, analytical
Sakhi Ghelichi, Betül Yesiltas, Charlotte Jacobsen   +2 more
wiley   +1 more source

Editorial: Germplasm conservation and semen banking in livestock: strategies, challenges, and applications. [PDF]

Front Vet Sci
Deori S.
europepmc   +1 more source

Low Fertilities before the Fertility Transition:

This chapter reconsiders the relationship between low fertility and demographic transition by examining childlessness and very small families in a pre-transition society. Focusing on Zeeland, a Dutch province in the nineteenth century, it challenges the conventional view that childlessness and two-child families were primarily products of modernization,
openaire   +2 more sources

Interfacial Defect Engineering for Enhanced Polymer Solar Cell Performance

Journal of Applied Polymer Science, EarlyView.
Plasmonic is an effective mechanism to improve the charge transport process in polymer solar cells. Numerical simulation confirms the effect of multiple enhancement mechanisms of plasmonic in PTB7:PC70BM‐based solar cells. ABSTRACT Plasmonic metal nanoparticles provide a promising strategy to simultaneously modulate optical absorption and charge ...
Ncedo Jili, Genene Tessema Mola
wiley   +1 more source

Preserving Fertility After Bilateral Testicular Gunshot Injury: A Case Report. [PDF]

Case Rep Surg
Sholan R, Aliyev R, Karimov S.
europepmc   +1 more source