Mechanisms in endocrinology: novel genetic causes of short stature

JM Wit, W Oostdijk, M Losekoot… - European Journal of …, 2016 - academic.oup.com
The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …

Syndromes with supernumerary teeth

M Lubinsky, PN Kantaputra - American Journal of Medical …, 2016 - Wiley Online Library
While most supernumerary teeth are idiopathic, they can be associated with a number of
Mendelian syndromes. However, this can also be a coincidental finding, since …

TRPS1 expression in breast carcinomas: focusing on metaplastic breast carcinomas

B Parkinson, W Chen, T Shen… - The American journal of …, 2022 - journals.lww.com
TRPS1 has been recently demonstrated as a highly sensitive and specific marker for breast
carcinomas. To further explore TRPS1's utility in breast carcinoma, we systematically …

Update on Whole-Body MRI Surveillance for Pediatric Cancer Predisposition Syndromes

MLC Greer, LJ States, D Malkin, SD Voss… - Clinical Cancer …, 2024 - aacrjournals.org
Whole-body MRI (WBMRI) is an integral part of screening infants, children, and adolescents
for presymptomatic neoplasms in certain cancer predisposition syndromes, which include Li …

[HTML][HTML] Low-pass genome sequencing: validation and diagnostic utility from 409 clinical cases of low-pass genome sequencing for the detection of copy number …

A Chaubey, S Shenoy, A Mathur, Z Ma… - The Journal of Molecular …, 2020 - Elsevier
DNA copy number variants (CNVs) account for approximately 300 Mb of sequence variation
in the normal human genome. Significant numbers of pathogenic CNVs contribute toward …

TRPS1 acts as a context-dependent regulator of mammary epithelial cell growth/differentiation and breast cancer development

LM Cornelissen, AP Drenth… - Genes & …, 2020 - genesdev.cshlp.org
The GATA-type zinc finger transcription factor TRPS1 has been implicated in breast cancer.
However, its precise role remains unclear, as both amplifications and inactivating mutations …

TRPS1 is a lineage-specific transcriptional dependency in breast cancer

RM Witwicki, MB Ekram, X Qiu, M Janiszewska, S Shu… - Cell reports, 2018 - cell.com
Perturbed epigenomic programs play key roles in tumorigenesis, and chromatin modulators
are candidate therapeutic targets in various human cancer types. To define singular and …

Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis

J Cai, W Zhang, Y Lu, W Liu, H Zhou, M Liu… - Signal transduction and …, 2024 - nature.com
Liver metastasis remains the primary cause of mortality in patients with colon cancer.
Identifying specific driver gene mutations that contribute to metastasis may offer viable …

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

LC Krab, I Marcos-Alcalde, M Assaf… - Human genetics, 2020 - Springer
RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have
been associated with Cornelia de Lange Syndrome (CdLS). Limited information on …

Challenges in non‐invasive prenatal screening for sub‐chromosomal copy number variations using cell‐free DNA

HV Advani, AN Barrett, MI Evans… - Prenatal …, 2017 - Wiley Online Library
Non‐invasive prenatal screening (NIPS) has revolutionized the approach to prenatal fetal
aneuploidy screening. Many commercial providers now offer analyses for sub‐chromosomal …