Pubertal development and regulation

AP Abreu, UB Kaiser - The lancet Diabetes & endocrinology, 2016 - thelancet.com
Puberty marks the end of childhood and is a period when individuals undergo physiological
and psychological changes to achieve sexual maturation and fertility. The hypothalamic …

The human obesity gene map: the 2005 update

T Rankinen, A Zuberi, YC Chagnon, SJ Weisnagel… - …, 2006 - Wiley Online Library
This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

AP Abreu, A Dauber, DB Macedo… - … England Journal of …, 2013 - Mass Medical Soc
Background The onset of puberty is first detected as an increase in pulsatile secretion of
gonadotropin-releasing hormone (GnRH). Early activation of the hypothalamic–pituitary …

Epigenetics: regulation through repression

AP Wolffe, MA Matzke - science, 1999 - science.org
Epigenetics is the study of heritable changes in gene expression that occur without a
change in DNA sequence. Epigenetic phenomena have major economic and medical …

A systematic review of genetic syndromes with obesity

Y Kaur, RJ De Souza, WT Gibson, D Meyre - Obesity Reviews, 2017 - Wiley Online Library
Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …

The congenital and acquired mechanisms implicated in the etiology of central precocious puberty

VN Brito, APM Canton, CE Seraphim… - Endocrine …, 2023 - academic.oup.com
The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including
congenital and acquired causes that can be associated with structural or functional brain …

[图书][B] RNA, the epicenter of genetic information

J Mattick, P Amaral - 2023 - library.oapen.org
The origin story and emergence of molecular biology is muddled. The early triumphs in
bacterial genetics and the complexity of animal and plant genomes complicate an intricate …

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

RD Nicholls, JL Knepper - Annual review of genomics and …, 2001 - annualreviews.org
The chromosomal region, 15q11-q13, involved in Prader-Willi and Angelman syndromes
(PWS and AS) represents a paradigm for understanding the relationships between genome …

[HTML][HTML] MKRN3 inhibits the reproductive axis through actions in kisspeptin-expressing neurons

AP Abreu, CA Toro, YB Song… - The Journal of …, 2020 - Am Soc Clin Investig
The identification of loss-of-function mutations in MKRN3 in patients with central precocious
puberty in association with the decrease in MKRN3 expression in the medial basal …

Non-coding RNAs: new players in eukaryotic biology

FF Costa - Gene, 2005 - Elsevier
The completion of the human, mouse and other eukaryotic genomes were important
scientific milestones, but they were just small steps towards the understanding of eukaryotic …