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Journal of Human Genetics (4)
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Showing 1–10 of 10 results

Advanced filters: Author: Seon-Yong Kim Clear advanced filters

TUSC3 regulates ERMA-mediated Mg²⁺ uptake for synaptic function and neurodevelopment

This study shows that TUSC3 is essential for magnesium balance in the brain. Loss of TUSC3 disrupts neuron function and leads to intellectual disability in a mouse model, but magnesium supplementation restores brain function, pointing to a potential therapy.

Gyeongrin Park
Namhoon Kim
Yong-Keun Jung
ResearchOpen Access07 Nov 2025
Nature Communications

Volume: 16, P: 1-19
UBAP2 plays a role in bone homeostasis through the regulation of osteoblastogenesis and osteoclastogenesis

The authors identify UBAP2 as a novel osteoporosis susceptibility gene by performing association studies focusing on coding regions of the genome, and report that it plays a role in bone homeostasis through the regulation of bone remodelling.

Jeonghyun Kim
Bo-Young Kim
Seon-Yong Jeong
ResearchOpen Access20 Jun 2023
Nature Communications

Volume: 14, P: 1-16
The loss of succinate dehydrogenase B expression is frequently identified in hemangioblastoma of the central nervous system

Tae Hoon Roh
Hyunee Yim
Jang-Hee Kim
ResearchOpen Access10 Apr 2019
Scientific Reports

Volume: 9, P: 1-9
A novel homozygous MMP2 mutation in a patient with Torg–Winchester syndrome

Seon-Yong Jeong
Bo-Young Kim
Ok-Hwa Kim
Research19 Aug 2010
Journal of Human Genetics

Volume: 55, P: 764-766
Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach

Seon-Yong Jeong
Seo-Jin Kim
Hyon J Kim
Research14 Apr 2011
Journal of Human Genetics

Volume: 56, P: 469-471
Erratum: Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach

Seon-Yong Jeong
Seo-Jin Kim
Hyon J Kim
Amendments and Corrections25 Oct 2011
Journal of Human Genetics

Volume: 56, P: 753-754
Caloric restriction of db/db mice reverts hepatic steatosis and body weight with divergent hepatic metabolism

Kyung Eun Kim
Youngae Jung
Geum-Sook Hwang
ResearchOpen Access21 Jul 2016
Scientific Reports

Volume: 6, P: 1-14
Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

Hyun-Seok Jin
Jong-Bin Lee
Shin-Young Yim
Research09 Oct 2014
Journal of Human Genetics

Volume: 59, P: 643-647
Coactosin-like F-actin binding protein (Cotl1) plays a key role in adipocyte differentiation and obesity

Ingenuity Pathway Analysis of RNA-sequencing predicted complicated relationships between Cotl1, differentiation of adipocytes, obesity and organization of actin cytoskeleton. Cotl1 plays a key role in adipocyte differentiation and obesity.

Eunkuk Park
Hyoju Jeon
Seon-Yong Jeong
ResearchOpen Access17 Apr 2025
Communications Biology

Volume: 8, P: 1-12
Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism

Eunkuk Park
Jaehoon Jung
Sihoon Lee
ResearchOpen Access04 Jul 2018
Scientific Reports

Volume: 8, P: 1-10