Results 191 to 200 of about 120,158 (339)

Treg Cells Modulate Neuroinflammation and Behavioral Deficits in Autism: Evidence From MR‐Based Genetic Analyses and Experimental Models

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.
Zuqing Nie, Xinyi Xu, Junhao Chen, Huiling Chen, Meng Li, Yang Zhang, Zhiwei Li, Chen Shen, Jie Wen, Xia Cao   +9 more
wiley   +1 more source

The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?

, 2018
Karina Colonetti, Luiz Fernando Würdig Roesch, Ida Vanessa Döederlein Schwartz   +2 more
openalex   +1 more source

Pulmonary Manifestations of Inborn Errors of Immunity: Diagnostic and Therapeutic Insights. [PDF]

Life (Basel)
Napiorkowska-Baran K, Cofta S, Treichel P, Tykwinska M, Lis K, Matyja-Bednarczyk A, Szymczak B, Szota M, Slawatycki J, Kulakowski M, Bartuzi Z.   +10 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core  

Pregnancy complications in women with an inborn error of immunity: a systematic review

Bengisu Yakut, Anna C.R. Knaapen, Xin Cui, P. Martin van Hagen, Virgil A. S. H. Dalm, A. Mulders, Saskia M. Rombach   +6 more
openalex   +1 more source

Invasive fungal disease in a large cohort of hospitalized children with inborn errors of immunity in China [PDF]

Haiqiao Zhang, Mi‐Jin Yang, Wenjing Ying, Jia Hou, Qinhua Zhou, Bijun Sun, Ying Wang, Xiaoying Hui, Lipin Liu, Haili Yao, Jinqiao Sun, Wenjie Wang, Xiaochuan Wang   +12 more
openalex   +1 more source

Human adenosine deaminase type 2 deficiency enhances NK cell activation but impairs maturation and function. [PDF]

J Clin Invest
Beliën J, De Visscher A, Pillay B, Wouters M, Kienapfel V, Bernaerts E, Mitera T, Berghmans N, Dubois B, Moens L, Matthys P, Meyts I.   +11 more
europepmc   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.

Molecular Genetics and Metabolism Reports, 2021
Johannes Krämer
doaj   +1 more source