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About 117,635 results

Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achi...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509642
Orphanet Journal of Rare Diseases; Olivotto S, Duse A et. al.

Sep 25th, 2022 - Glut1 deficiency syndrome (Glut1-DS) is a rare metabolic encephalopathy. Familial forms are poorly investigated, and no previous studies have explored aspects of Glut1-DS over the course of life: clinical pictures, intelligence, life achievements, and quality of life in adulthood. Clinical, biochemical and genetic data in a cohort of familial Glut1-DS cases were collected from medical records. ...

Isolated adrenocorticotropic hormone deficiency associated with sintilimab therapy in a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9509587
BMC Endocrine Disorders; Lin SH, Zhang A et. al.

Sep 25th, 2022 - Several immune checkpoint inhibitors have been implemented for cancer treatment which have shown some degree of antitumor effcacy, while immune-related adverse events (irAEs) that affect multiple organ functions ensue which obviously should not be neglected. Though less common than other kinds of irAEs, Immune checkpoint inhibitors (ICIs) related Isolated ACTH deficiency (IAD) may cause long-te...

Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients...
https://doi.org/10.1084/jem.20220094
The Journal of Experimental Medicine; Ogishi M, Arias AA et. al.

Sep 13th, 2022 - Human cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-α/β (underlying viral diseases in the patients) and to IL-12 and IL-23 (underlying mycobacterial diseases). Cells homozygous for the common P1104A TYK2 allele have selectively impaired responses to IL-23 (underlying isolated mycobacterial disease). We report three ne...

Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial compl...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9410648
Medicine Men L, Feng J et. al.

Sep 1st, 2022 - Leigh syndrome (LS) is a rare, progressive, and fatal neurodegenerative disease that occurs mainly in infants and children. Neonatal LS has not yet been fully described. The study design was approved by the ethics review board of Shenzhen Children's Hospital. A 24-day-old full-term male infant presented with a 2-day history of lip cyanosis when crying in September 2021. He was born to nonconsan...

Disease burden in patients with acute hepatic porphyria: experience from the phase 3 EN...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9419398
Orphanet Journal of Rare Diseases; Wang B, Ventura P et. al.

Aug 27th, 2022 - Acute hepatic porphyria (AHP) is a family of four rare genetic diseases, each involving deficiency in a hepatic heme biosynthetic enzyme. Resultant overproduction of the neurotoxic intermediates δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) leads to disabling acute neurovisceral attacks and progressive neuropathy. We evaluated the AHP disease burden in patients aged ≥ 12 years in a post...

MRI Findings of Pituitary Gland in Growth Hormone-Deficient Children and Their Correlat...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9385284
Contrast Media & Molecular Imaging; Chen J, Wang X et. al.

Aug 26th, 2022 - This study aims to explore the magnetic resonance imaging (MRI) findings of the pituitary gland (PG) in children with growth hormone deficiency (GHD) and their correlation with the growth hormone (GH) peak during clinical GH stimulation tests. Sixty-one children with GHD diagnosed and treated between December 2018 and December 2021 were retrospectively analyzed in terms of clinical and pituitar...

RASA2 ablation in T cells boosts antigen sensitivity and long-term function.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433322
Nature Carnevale J, Shifrut E et. al.

Aug 25th, 2022 - The efficacy of adoptive T cell therapies for cancer treatment can be limited by suppressive signals from both extrinsic factors and intrinsic inhibitory checkpoints1,2. Targeted gene editing has the potential to overcome these limitations and enhance T cell therapeutic function3-10. Here we performed multiple genome-wide CRISPR knock-out screens under different immunosuppressive conditions to ...

A 24-Year-Old Woman Presenting in the Third Trimester of Pregnancy with Nausea, Vomitin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9423005
The American Journal of Case Reports; Naothavorn W, Thanapongpibul C et. al.

Aug 25th, 2022 - BACKGROUND Acute fatty liver of pregnancy (AFLP) is a rare obstetric emergency that most commonly occurs in the third trimester and has high mortality rates for the mother and fetus. AFLP is a diagnosis of exclusion supported by identifying 6 or more of the 15 Swansea criteria. This report is of a 24-year-old woman presenting in the third trimester of pregnancy with nausea, vomiting, and abdomi...

Phosphorylation of muramyl peptides by NAGK is required for NOD2 activation.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9477735
Nature Stafford CA, Gassauer AM et. al.

Aug 25th, 2022 - Bacterial cell wall components provide various unique molecular structures that are detected by pattern recognition receptors (PRRs) of the innate immune system as non-self. Most bacterial species form a cell wall that consists of peptidoglycan (PGN), a polymeric structure comprising alternating amino sugars that form strands cross-linked by short peptides. Muramyl dipeptide (MDP) has been well...

Maternal IL-33 critically regulates tissue remodeling and type 2 immune responses in th...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9436313
Proceedings of the National Academy of Sciences of the Un... Valero-Pacheco N, Tang EK et. al.

Aug 23rd, 2022 - The pregnant uterus is an immunologically rich organ, with dynamic changes in the inflammatory milieu and immune cell function underlying key stages of pregnancy. Recent studies have implicated dysregulated expression of the interleukin-1 (IL-1) family cytokine, IL-33, and its receptor, ST2, in poor pregnancy outcomes in women, including recurrent pregnancy loss, preeclampsia, and preterm labor...

The amino acid sensor GCN2 controls red blood cell clearance and iron metabolism throug...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9436309
Proceedings of the National Academy of Sciences of the Un... Toboz P, Amiri M et. al.

Aug 23rd, 2022 - GCN2 (general control nonderepressible 2) is a serine/threonine-protein kinase that controls messenger RNA translation in response to amino acid availability and ribosome stalling. Here, we show that GCN2 controls erythrocyte clearance and iron recycling during stress. Our data highlight the importance of liver macrophages as the primary cell type mediating these effects. During different stres...

Blocking CHOP-dependent TXNIP shuttling to mitochondria attenuates albuminuria and miti...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9436335
Proceedings of the National Academy of Sciences of the Un... Park SJ, Kim Y et. al.

Aug 23rd, 2022 - Albuminuria is a hallmark of glomerular disease of various etiologies. It is not only a symptom of glomerular disease but also a cause leading to glomerulosclerosis, interstitial fibrosis, and eventually, a decline in kidney function. The molecular mechanism underlying albuminuria-induced kidney injury remains poorly defined. In our genetic model of nephrotic syndrome (NS), we have identified C...

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyske...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388389
American Journal of Human Genetics; Tummala H, Walne A et. al.

Aug 6th, 2022 - Dyskeratosis congenita (DC) is an inherited bone-marrow-failure disorder characterized by a triad of mucocutaneous features that include abnormal skin pigmentation, nail dystrophy, and oral leucoplakia. Despite the identification of several genetic variants that cause DC, a significant proportion of probands remain without a molecular diagnosis. In a cohort of eight independent DC-affected fami...

Transcriptome variation in human tissues revealed by long-read sequencing.
https://doi.org/10.1038/s41586-022-05035-y
Nature Glinos DA, Garborcauskas G et. al.

Aug 4th, 2022 - Regulation of transcript structure generates transcript diversity and plays an important role in human disease1-7. The advent of long-read sequencing technologies offers the opportunity to study the role of genetic variation in transcript structure8-16. In this Article, we present a large human long-read RNA-seq dataset using the Oxford Nanopore Technologies platform from 88 samples from Genoty...

Inhibition of ASGR1 decreases lipid levels by promoting cholesterol excretion.
https://doi.org/10.1038/s41586-022-05006-3
Nature Wang JQ, Li LL et. al.

Aug 4th, 2022 - High cholesterol is a major risk factor for cardiovascular disease1. Currently, no drug lowers cholesterol through directly promoting cholesterol excretion. Human genetic studies have identified that the loss-of-function Asialoglycoprotein receptor 1 (ASGR1) variants associate with low cholesterol and a reduced risk of cardiovascular disease2. ASGR1 is exclusively expressed in liver and mediate...

Arylamine N-acetyltransferase 1 deficiency inhibits drug-induced cell death in breast c...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464750
Breast Cancer Research and Treatment; McAleese CE, Butcher NJ et. al.

Aug 3rd, 2022 - Arylamine N-acetyltransferase 1 (NAT1) deficiency has been associated with drug resistance and poor outcomes in breast cancer patients. The current study aimed to investigate drug resistance in vitro using normal breast cancer cell lines and NAT1-deficient cell lines to understand the changes induced by the lack of NAT1 that resulted in poor drug response. The response to seven chemotherapeutic...

Fic-mediated AMPylation tempers the unfolded protein response during physiological stress.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9371680
Proceedings of the National Academy of Sciences of the Un... Casey AK, Gray HF et. al.

Aug 2nd, 2022 - The proper balance of synthesis, folding, modification, and degradation of proteins, also known as protein homeostasis, is vital to cellular health and function. The unfolded protein response (UPR) is activated when the mechanisms maintaining protein homeostasis in the endoplasmic reticulum become overwhelmed. However, prolonged or strong UPR responses can result in elevated inflammation and ce...

Patient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9402748
Advances in Therapy; Wheeden K, Lyon Howe D et. al.

Jul 31st, 2022 - Acute hepatic porphyria (AHP) is a family of rare metabolic diseases characterized by potentially life-threatening acute attacks and, in some patients, chronic debilitating symptoms. While patients with frequent or recurrent attacks (three or more attacks annually) are known to have reduced health-related quality of life (HRQoL) as most aspects of daily living are impacted, limited data exist i...

Cardiometabolic profile of young women with hypoprolactinemia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474346
Endocrine Krysiak R, Kowalcze K et. al.

Jul 30th, 2022 - Unlike hyperprolactinemia, clinical significance of prolactin deficiency remains poorly understood. The aim of this study was to assess the cardiometabolic profile of patients with low prolactin levels. The study population consisted of three groups of young women. Two groups were chronically treated with cabergoline but differed in prolactin levels, which were either abnormally low (group A; n...

Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9355881
Nature Immunology; Csomos K, Ujhazi B et. al.

Jul 29th, 2022 - The recombination-activating genes (RAG) 1 and 2 are indispensable for diversifying the primary B cell receptor repertoire and pruning self-reactive clones via receptor editing in the bone marrow; however, the impact of RAG1/RAG2 on peripheral tolerance is unknown. Partial RAG deficiency (pRD) manifesting with late-onset immune dysregulation represents an 'experiment of nature' to explore this ...