scholarly journals Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

2019 ◽  
Vol 10 ◽  
Author(s):  
Yixi Sun ◽  
Yuqin Luo ◽  
Yeqing Qian ◽  
Min Chen ◽  
Liya Wang ◽  
...  
Keyword(s):  
Clinical Heterogeneity ◽  
Heterozygous Deletion ◽  
Shox Gene ◽  
Gene Enhancer

scholarly journals Heterozygous Deletion in Exons 4-5 of SHOX Gene in a Patient Diagnosed as Idiopathic Short Stature

2017 ◽  
Vol 63 (3) ◽  
pp. 155-158 ◽  
Author(s):  
Anna David ◽  
Imre Zoltán Kun ◽  
Gábor Nyírő ◽  
Zsuzsánna Szántó ◽  
Attila Patócs
Keyword(s):  
Short Stature ◽  
Tanner Stage ◽  
Thyroid Stimulating Hormone ◽  
Idiopathic Short Stature ◽  
Breast Development ◽  
Heterozygous Deletion ◽  
Shox Gene ◽  
Sitting Height ◽  
History Of ◽  
Stage 1

AbstractIntroduction: Isolated Short Stature Homeobox (SHOX) gene haploinsufficiency can be found in 2-15% of individuals diagnosed with idiopathic short stature determining different skeletal phenotypes.Case presentation: We present the history of an 11-year-old female patient diagnosed with idiopathic short stature. Clinically, she was moderately disproportionate, with cubitus valgus and palatum ogivale. Her breast development was in Tanner stage 1 at the time of diagnosis. The endocrine diagnostic tests did not reveal any abnormalities except a slightly elevated thyroid stimulating hormone. We have also assessed the bone radiological findings. Multiplex Ligation-dependent Probe Amplification technique used for the identification of SHOX gene haploinsufficiency showed a heterozygous deletion spanning exons 4-5 of SHOX gene.Conclusions: This case is determined by deletions in exons 4-5 of SHOX gene and indicates the necessity of screening for SHOX deletions in patients diagnosed with idiopathic short stature, especially in children having increased sitting height-to-height ratio or decreased extremities-to-trunk ratio.

Properties of the human ezrin gene enhancer in HeLa cells: position, orientation and promoter dependence

2010 ◽  
Vol 34 (8) ◽  
pp. S45-S45
Author(s):  
Shu‑Ying Gao ◽  
Jie Yu ◽  
Yan‑Peng Dai
Keyword(s):  
Hela Cells ◽  
Gene Enhancer

Delay stature and shox gene molecular abnormalities: about 4 families

2013 ◽  
Author(s):  
Nora Soumeya Fedala ◽  
Haddam Ali El Mehdi ◽  
Farida Chentli ◽  
Meriem Haddad ◽  
Lyna Akkache
Keyword(s):  
Shox Gene ◽  
Molecular Abnormalities

scholarly journals Characterization of a human apolipoprotein E gene enhancer element and its associated protein factors.

1990 ◽  
Vol 265 (16) ◽  
pp. 9496-9504 ◽  
Author(s):  
D J Chang ◽  
Y K Paik ◽  
T P Leren ◽  
D W Walker ◽  
G J Howlett ◽  
...  
Keyword(s):  
Apolipoprotein E ◽  
Enhancer Element ◽  
E Gene ◽  
Human Apolipoprotein ◽  
Apolipoprotein E Gene ◽  
Gene Enhancer

Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation

2021 ◽  
Author(s):  
Kei Takasawa ◽  
Yuichi Miyakawa ◽  
Yoko Saito ◽  
Eriko Adachi ◽  
Tsunanori Shidei ◽  
...  
Keyword(s):  
Congenital Hyperinsulinism ◽  
Clinical Heterogeneity

scholarly journals Tumor Heterogenity in Gastro-Entero-Pancreatic Neuroendocrine Neoplasia

Endocrines ◽  
2021 ◽  
Vol 2 (1) ◽  
pp. 28-36
Author(s):  
Ludovica Magi ◽  
Maria Rinzivillo ◽  
Francesco Panzuto
Keyword(s):  
Functional Imaging ◽  
Clinical Heterogeneity ◽  
Therapeutic Approaches ◽  
Prognostic Role ◽  
Neuroendocrine Neoplasia ◽  
Pet Ct ◽  
18F Fdg ◽  
Fdg Pet Ct

Owing to the rarity and the biological and clinical heterogeneity of gastroenteropancreatic neuroendocrine neoplasia (GEP NEN), the management of these patients may be challenging for physicians. This review highlights the specific features of GEP NEN with particular attention on the role of Ki67 heterogeneity, the potential prognostic role of novel radiological techniques, and the clinical usefulness of functional imaging, including 68Ga-DOTA-SST PET/CT and 18F-FDG PET/CT. Understanding these specific features may help to plan proper and tailored follow-up programs and therapeutic approaches.

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