Results 121 to 130 of about 152,197 (251)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Editorial: Genetically mobile elements repurposed by nature and biotechnologists

Frontiers in Molecular Biosciences, 2022
Christopher W. Lennon, Brian P. Callahan, Benoit Cousineau, David R. Edgell, Marlene Belfort   +4 more
doaj   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Phase Ib study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis

Hepatology, EarlyView., 2022
Phase 1b study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis. Abstract Background and Aims We evaluated the efficacy and safety of the antiangiogenic tyrosine kinase inhibitor anlotinib plus TQB2450, a programmed death‐ligand 1 inhibitor in pretreated advanced biliary tract cancers (BTCs ...
Jun Zhou, Yongkun Sun, Wen Zhang, Jiajia Yuan, Zhi Peng, Wei Wang, Jifang Gong, Lin Yang, Yanshuo Cao, Hong Zhao, Chao Chen, Weifeng Wang, Lin Shen, Aiping Zhou   +13 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Myeloid p38 activation maintains macrophage–liver crosstalk and BAT thermogenesis through IL‐12–FGF21 axis

Hepatology, EarlyView., 2022
Physiological activation of myeloid p38 controls macrophage IL‐12 production and crosstalk to the liver by modulating hepatic FGF21, and subsequently, brown adipose tissue thermogenesis during obesity Abstract Obesity features excessive fat accumulation in several body tissues and induces a state of chronic low‐grade inflammation that contributes to ...
María Crespo, Ivana Nikolic, Alfonso Mora, Elena Rodríguez, Luis Leiva‐Vega, Aránzazu Pintor‐Chocano, Daniel Horrillo, Lourdes Hernández‐Cosido, Jorge L. Torres, Eva Novoa, Rubén Nogueiras, Gema Medina‐Gómez, Miguel Marcos, Magdalena Leiva, Guadalupe Sabio   +14 more
wiley   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

CD8+ T cell memory is sustained in mice by hepatic stellate cells

Hepatology, EarlyView., 2022
HSC role in memory CD8+ T cell maintenance. Abstract Background and Aims Long‐lasting immunological memory is the ultimate goal of vaccination. Homeostatic maintenance of memory CD8+ cytotoxic T cells (MemCD8TCs) is thought to be mediated by IL‐15/IL‐15R heterodimer (15HD)‐expressing myeloid cells.
Yi‐Ting Chen, Yu‐Chia Su, Yee‐Ern Or, Chin‐Fu Cheng, John T. Kung   +4 more
wiley   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source