High-Resolution and Multidimensional Phenotypes Can Complement Genomics Data to Diagnose Diseases in the Neonatal Population

Xiao, Tian; Dong, Xinran; Lu, Yulan; Zhou, Wenhao

doi:10.1007/s43657-022-00071-0

Cited by 3 publications

(1 citation statement)

References 123 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Phenome, however, is not fully comprehended. The processes behind newborn disorders have been better understood thanks to high-resolution and multidimensional phenotypes, which may also help to improve treatment approaches [ 65 ].…”

Section: Discussionmentioning

confidence: 99%

Continuous Glucose Monitoring in Transient Neonatal Diabetes Mellitus—2 Case Reports and Literature Review

Chisnoiu,

Balasa,

Mihai

et al. 2023

Diagnostics

View full text Add to dashboard Cite

Neonatal diabetes mellitus is a rare genetic disease that affects 1 in 90,000 live births. The start of the disease is often before the baby is 6 months old, with rare cases of onset between 6 months and 1 year. It is characterized by low or absent insulin levels in the blood, leading to severe hyperglycemia in the patient, which requires temporary insulin therapy in around 50% of cases or permanent insulin therapy in other cases. Two major processes involved in diabetes mellitus are a deformed pancreas with altered insulin-secreting cell development and/or survival or faulty functioning of the existing pancreatic beta cell. We will discuss the cases of two preterm girls with neonatal diabetes mellitus in this research. In addition to reviewing the literature on the topic, we examined the different mutations, patient care, and clinical outcomes both before and after insulin treatment.

show abstract

Section: Discussionmentioning

confidence: 99%

Continuous Glucose Monitoring in Transient Neonatal Diabetes Mellitus—2 Case Reports and Literature Review

Chisnoiu,

Balasa,

Mihai

et al. 2023

Diagnostics

View full text Add to dashboard Cite

show abstract

Progress of the Impact of Terahertz Radiation on Ion Channel Kinetics in Neuronal Cells

Liu,

Shu

et al. 2024

Neurosci. Bull.

View full text Add to dashboard Cite

Multilevel proteomic analyses reveal molecular diversity between diffuse-type and intestinal-type gastric cancer

Shi

Wang

et al. 2023

Nat Commun

View full text Add to dashboard Cite

Diffuse-type gastric cancer (DGC) and intestinal-type gastric cancer (IGC) are the major histological types of gastric cancer (GC). The molecular mechanism underlying DGC and IGC differences are poorly understood. In this research, we carry out multilevel proteomic analyses, including proteome, phospho-proteome, and transcription factor (TF) activity profiles, of 196 cases covering DGC and IGC in Chinese patients. Integrative proteogenomic analysis reveals ARIDIA mutation associated with opposite prognostic effects between DGC and IGC, via diverse influences on their corresponding proteomes. Systematical comparison and consensus clustering analysis identify three subtypes of DGC and IGC, respectively, based on distinct patterns of the cell cycle, extracellular matrix organization, and immune response-related proteins expression. TF activity-based subtypes demonstrate that the disease progressions of DGC and IGC were regulated by SWI/SNF and NFKB complexes. Furthermore, inferred immune cell infiltration and immune clustering show Th1/Th2 ratio is an indicator for immunotherapeutic effectiveness, which is validated in an independent GC anti-PD1 therapeutic patient group. Our multilevel proteomic analyses enable a more comprehensive understanding of GC and can further advance the precision medicine.

show abstract

High-Resolution and Multidimensional Phenotypes Can Complement Genomics Data to Diagnose Diseases in the Neonatal Population

Cited by 3 publications

References 123 publications

Continuous Glucose Monitoring in Transient Neonatal Diabetes Mellitus—2 Case Reports and Literature Review

Continuous Glucose Monitoring in Transient Neonatal Diabetes Mellitus—2 Case Reports and Literature Review

Progress of the Impact of Terahertz Radiation on Ion Channel Kinetics in Neuronal Cells

Multilevel proteomic analyses reveal molecular diversity between diffuse-type and intestinal-type gastric cancer

Contact Info

Product

Resources

About