MKRN3-mediated ubiquitination of Poly(A)-binding proteins modulates the stability and translation of GNRH1 mRNA in mammalian puberty
C Li, T Han, Q Li, M Zhang, R Guo, Y Yang… - Nucleic acids …, 2021 - academic.oup.com
The family of Poly (A)-binding proteins (PABPs) regulates the stability and translation of
messenger RNAs (mRNAs). Here we reported that the three members of PABPs, including …
messenger RNAs (mRNAs). Here we reported that the three members of PABPs, including …
MKRN3 Mutations in Central Precocious Puberty: A Systematic Review and Meta-Analysis
LP Valadares, CG Meireles… - Journal of the …, 2019 - academic.oup.com
MKRN3 mutations represent the most common genetic cause of central precocious puberty
(CPP) but associations between genotype and clinical features have not been extensively …
(CPP) but associations between genotype and clinical features have not been extensively …
The human obesity gene map: the 2004 update
This paper presents the eleventh update of the human obesity gene map, which
incorporates published results up to the end of October 2004. Evidence from single‐gene …
incorporates published results up to the end of October 2004. Evidence from single‐gene …
[HTML][HTML] Imprinting-mutation mechanisms in Prader-Willi syndrome
T Ohta, TA Gray, PK Rogan, K Buiting… - The American Journal of …, 1999 - cell.com
Microdeletions of a region termed the" imprinting center"(IC) in chromosome 15q11-q13
have been identified in several families with Prader-Willi syndrome (PWS) or Angelman …
have been identified in several families with Prader-Willi syndrome (PWS) or Angelman …
[HTML][HTML] Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have …
JH Chai, DP Locke, JM Greally, JHM Knoll… - The American Journal of …, 2003 - cell.com
Prader-Willi and Angelman syndromes (PWS and AS) typically result from an∼ 4-Mb
deletion of human chromosome 15q11-q13, with clustered breakpoints (BP) at either of two …
deletion of human chromosome 15q11-q13, with clustered breakpoints (BP) at either of two …
RNA-directed DNA methylation
M Wassenegger - Plant Gene Silencing, 2000 - Springer
RNA-DNA interactions can serve as a signal that triggers de novo DNA methylation in
plants. As yet, this RNA-directed DNA methylation mechanism merely targets transgenes …
plants. As yet, this RNA-directed DNA methylation mechanism merely targets transgenes …
Minireview: human obesity—lessons from monogenic disorders
Genetic influences on the determination of human fat mass are profound and powerful, a
statement that does not conflict with the obvious influence of environmental factors that drive …
statement that does not conflict with the obvious influence of environmental factors that drive …
The human obesity gene map: the 2002 update
YC Chagnon, T Rankinen, EE Snyder… - Obesity …, 2003 - Wiley Online Library
This is the ninth update of the human obesity gene map, incorporating published results
through October 2002 and continuing the previous format. Evidence from single‐gene …
through October 2002 and continuing the previous format. Evidence from single‐gene …
[HTML][HTML] Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal …
JM Amos-Landgraf, Y Ji, W Gottlieb, T Depinet… - The American Journal of …, 1999 - cell.com
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurobehavioral
disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during …
disorders that most often arise from a 4-Mb deletion of chromosome 15q11-q13 during …
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3
Context: Loss-of-function mutations in makorin ring finger 3 (MKRN3), an imprinted gene
located on the long arm of chromosome 15, have been recognized recently as a cause of …
located on the long arm of chromosome 15, have been recognized recently as a cause of …