Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system

VF Sidhoum, YM Chan, MF Lippincott… - The Journal of …, 2014 - academic.oup.com
Context: A subset of patients diagnosed with idiopathic hypogonadotropic hypogonadism
(IHH) later achieves activation of their hypothalamic-pituitary-gonadal axis with …

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

ND Shaw, H Brand, ZA Kupchinsky, H Bengani… - Nature …, 2017 - nature.com
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often
accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia …

[PDF][PDF] Burden testing of rare variants identified through exome sequencing via publicly available control data

MH Guo, L Plummer, YM Chan, JN Hirschhorn… - The American Journal of …, 2018 - cell.com
The genetic causes of many Mendelian disorders remain undefined. Factors such as lack of
large multiplex families, locus heterogeneity, and incomplete penetrance hamper these …

Role of Inn1 and its interactions with Hof1 and Cyk3 in promoting cleavage furrow and septum formation in S. cerevisiae

R Nishihama, JH Schreiter, M Onishi, EA Vallen… - Journal of cell …, 2009 - rupress.org
Cytokinesis requires coordination of actomyosin ring (AMR) contraction with rearrangements
of the plasma membrane and extracellular matrix. In Saccharomyces cerevisiae, new …

Kisspeptin overcomes GnRH neuronal suppression secondary to hyperprolactinemia in humans

K Hoskova, N Kayton Bryant, ME Chen… - The Journal of …, 2022 - academic.oup.com
Context Hyperprolactinemia suppresses gonadotropin-releasing hormone (GnRH)-induced
luteinizing hormone (LH) pulses. The hypothalamic neuropeptide kisspeptin potently …

Hypothalamic reproductive endocrine pulse generator activity independent of neurokinin B and dynorphin signaling

MF Lippincott, S León, YM Chan… - The Journal of …, 2019 - academic.oup.com
Abstract Context Kisspeptin–neurokinin B (NKB)–dynorphin neurons are critical regulators
of the hypothalamic–pituitary–gonadal axis. NKB and dynorphin are hypothesized to …

Using kisspeptin to predict pubertal outcomes for youth with pubertal delay

YM Chan, MF Lippincott, P Sales Barroso… - The Journal of …, 2020 - academic.oup.com
Context The management of youth with delayed puberty is hampered by difficulty in
predicting who will eventually progress through puberty and who will fail to attain adult …

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies

MR Richards, L Plummer, YM Chan… - Journal of medical …, 2017 - jmg.bmj.com
Background A constellation of neurodegenerative disorders exists (Gordon Holmes
syndrome, 4H leucodystrophy, Boucher-Neuhauser syndrome) in which patients suffer from …

Prevalence and phenotypic effects of copy number variants in isolated hypogonadotropic hypogonadism

MI Stamou, H Brand, M Wang, I Wong… - The Journal of …, 2022 - academic.oup.com
Context The genetic architecture of isolated hypogonadotropic hypogonadism (IHH) has not
been completely defined. Objective To determine the role of copy number variants (CNVs) in …

Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease

MF Lippincott, C True, SB Seminara - Experimental physiology, 2013 - Wiley Online Library
New findings• What is the topic of this review? This review discusses the genetics of
idiopathic hypogonadotrophic hypogonadism, with a focus on how deficiencies in the …