Results 71 to 80 of about 21,624 (243)

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 [PDF]

, 2015
Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or ...
Bahlo, M. (Melanie), Drop, S.L.S. (Stenvert), Eggers, S. (Stefanie), Faradz, S.M.H. (Sultana), Harley, V.R. (Vincent), Juniarto, A.Z. (Achmad), Koopman, P. (Peter), Looijenga, L.H.J. (Leendert), Sinclair, A. (Andrew), Smith, K.R. (Ken Robert)   +9 more
core   +1 more source

Nanomedicine Meets Immunotherapy: Advancing Adoptive Cell Therapy with Nanoparticles in the Treatment of Cancer with Sustainability Perspectives

Advanced Science, EarlyView.
This review surveys nanoparticle‐based strategies to enhance adoptive cell therapy, particularly CAR‐T cell approaches, in solid tumor treatment. It describes how nanoparticles can improve tumor immunogenicity and T‐cell infiltration while reducing toxicity, and how they enable in vivo CAR‐T cell generation.
Erica Frostegård, Tatiana Bobrova, Amalie Leinebø, Thibault Leray, Shayamita Ghosh, Lorena García‐Hevia, Chiara Puccinelli, Lorenzo Riccio, Jacopo Sorani, Davide Bonifazi, Julien Caumartin, Emmanuel Donnadieu, Florence Gazeau, Roland Hischier, Else Marit Inderberg, Mónica L. Fanarraga, Maria Loustau, Bernd Nowack, Sébastien Wälchli, Cécilia Ménard‐Moyon   +19 more
wiley   +1 more source

Mitochondrial disease and endocrine dysfunction [PDF]

, 2017
Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking.
Achermann, JC, Chow, J, Dattani, MT, Rahman, J, Rahman, S   +4 more
core  

Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]

, 2014
Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J, Hare, Emma B, Lozano, Reymundo   +2 more
core   +1 more source

Toward Predictable Nanomedicine: Current Forecasting Frameworks for Nanoparticle–Biology Interactions

Advanced Intelligent Discovery, EarlyView.
Predictive models successfully screen nanoparticles for toxicity and cellular uptake. Yet, complex biological dynamics and sparse, nonstandardized data limit their accuracy. The field urgently needs integrated artificial intelligence/machine learning, systems biology, and open‐access data protocols to bridge the gap between materials science and safe ...
Mariya L. Ivanova, Michael Nicholls, Nicola Russo, Gueorgui Mihaylov, Konstantin Nikolic   +4 more
wiley   +1 more source

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies. [PDF]

, 2018
© The Author(s) 2018. Published by Oxford University Press. All rights reserved. SOX8 is an HMG-box transcription factor closely related to SRY and SOX9.
Ahmed, Aleksandar Rajkovic, Andrew J Duncan, Anu Bashamboo, Barrionuevo, Bashamboo, Bashamboo, Bashamboo, Ben Khelifa, Bhagavath, Caburet, Capucine Hyon, Caroline de Malleray Pichard, Caroline Eozenou, Caroline Schluth-Bolard, Celia Ravel, Chaboissier, Christine Louis-Sylvestre, Cooper, Eduardo H Charreau, Erickson, Etienne Patin, Ewa Rajpert-De Meyts, Gonen, Guth, Harteveld, Hassan Rouba, Huang, Hughes, Inas Mazen, Jakubiczka, Jamsai, Jean-Pierre Siffroi, Joelle Bignon-Topalovic, John C Achermann, Ken McElreavey, Kristian Almstrup, Lavery, Lee, Leila Fusee, Liliana Dain, Lin, Liu, Lourenço, Luca Persani, Marie-Charlotte Dumargne, Marie-France Portnoi, Matzuk, Miguel Reyes-Mugica, Neirijnck, Nelson, Ng, Nicol, O'Bryan, Origa, Pierre Validire, Péterfy, Raffaella Rossetti, Raja Brauner, Ralf Jauch, Ray, Salmon, Sandra Chantot-Bastaraud, Sandra Rojo, Schepers, Sekido, Selma F Witchel, Skakkebaek, Smyk, Sophie Christin-Maitre, Stolt, Stuart MacGowan, Suntharalingham, Sutton, Svetlana A Yatsenko, Violeta A Chiauzzi, W H Irwin McLean, Wang, Yatsenko, Yogesh Srivastava   +79 more
core   +12 more sources

Disorders of sex development: challenges for the future [PDF]

, 2012
No abstract ...
Ahmed, Ahmed, Ahmed, Bashamboo, Camats, Ferraz-de-Souza, Hughes, Idkowiak, Kyriakie Sarafoglou, Ledig, Pasterski, Pearlman, S. Faisal Ahmed, Sarafoglou, Sarafoglou   +14 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +1 more source

Occult form of premature ovarian insufficiency [PDF]

Gynecological Endocrinology, 2016
Premature ovarian insufficiency (POI) is a life-changing diagnosis, with profound physical and psychological consequences. Despite the description of different genetic, immune and iatrogenic factors of POI, the etiology of most cases of this disease are unexplained, and optimal management strategies are still unclear.
Shestakova I.G., Radzinsky V.E., Khamoshina M.B.   +2 more
openaire   +4 more sources