Cargando…

Contributions of Function-Altering Variants in Genes Implicated in Pubertal Timing and Body Mass for Self-Limited Delayed Puberty

CONTEXT: Self-limited delayed puberty (DP) is often associated with a delay in physical maturation, but although highly heritable the causal genetic factors remain elusive. Genome-wide association studies of the timing of puberty have identified multiple loci for age at menarche in females and voice...

Descripción completa

Detalles Bibliográficos
Autores principales:	Howard, Sasha R., Guasti, Leonardo, Poliandri, Ariel, David, Alessia, Cabrera, Claudia P., Barnes, Michael R., Wehkalampi, Karoliina, O’Rahilly, Stephen, Aiken, Catherine E., Coll, Anthony P., Ma, Marcella, Rimmington, Debra, Yeo, Giles S. H., Dunkel, Leo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2017
Materias:	Clinical Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800831/ https://www.ncbi.nlm.nih.gov/pubmed/29161441 http://dx.doi.org/10.1210/jc.2017-02147

Ejemplares similares

HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes
por: Howard, Sasha R, et al.
Publicado: (2018)

EAP1 regulation of GnRH promoter activity is important for human pubertal timing
por: Mancini, Alessandra, et al.
Publicado: (2019)

LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling
por: Mancini, Alessandra, et al.
Publicado: (2020)

IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty
por: Howard, Sasha R, et al.
Publicado: (2016)

Defects in the GnRH Neuronal Migration factor, CCDC141, Lead to Self-Limited Delayed Puberty
por: Saengkaew, Tansit, et al.
Publicado: (2021)

Loss of Agouti-Related Peptide Does Not Significantly Impact the Phenotype of Murine POMC Deficiency
por: Corander, Marcus P., et al.
Publicado: (2011)

Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty
por: Saengkaew, Tansit, et al.
Publicado: (2021)

FTO is necessary for the induction of leptin resistance by high-fat feeding
por: Tung, Y.C. Loraine, et al.
Publicado: (2015)

MON-LB048 Delayed or Absent? Use of Next Generation Sequencing Diagnostic Tools in a UK Puberty Cohort
por: Howard, Sasha, et al.
Publicado: (2019)

Targeted Resequencing of the Pericentromere of Chromosome 2 Linked to Constitutional Delay of Growth and Puberty
por: Cousminer, Diana L., et al.
Publicado: (2015)

Delayed Puberty—Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries
por: Howard, Sasha R, et al.
Publicado: (2019)

Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome
por: Polex-Wolf, Joseph, et al.
Publicado: (2018)

Interpretation of reproductive hormones before, during and after the pubertal transition—Identifying health and disordered puberty
por: Howard, Sasha R.
Publicado: (2021)

Endocrine disrupter effects on the gonads and pubertY
por: Söder, Olle
Publicado: (2013)

Disorders of Puberty: Endocrinology of the Pre-Pubertal Testis
por: La Vignera, Sandro, et al.
Publicado: (2020)

Loss of Mrap2 is associated with Sim1 deficiency and increased circulating cholesterol
por: Novoselova, T V, et al.
Publicado: (2016)

Timing of Puberty and Late Pubertal Height in Saudi Schoolboys: Riyadh Puberty Study II
por: Al Alwan, Ibrahim, et al.
Publicado: (2022)

Adult Onset Global Loss of the Fto Gene Alters Body Composition and Metabolism in the Mouse
por: McMurray, Fiona, et al.
Publicado: (2013)

Heterogeneity of hypothalamic pro-opiomelanocortin-expressing neurons revealed by single-cell RNA sequencing
por: Lam, Brian Y.H., et al.
Publicado: (2017)

Hypothalamic-Specific Manipulation of Fto, the Ortholog of the Human Obesity Gene FTO, Affects Food Intake in Rats
por: Tung, Yi-Chun Loraine, et al.
Publicado: (2010)

Fat mass and obesity-related (FTO) shuttles between the nucleus and cytoplasm
por: Gulati, Pawan, et al.
Publicado: (2014)

The Hormonal Control of Food Intake
por: Coll, Anthony P., et al.
Publicado: (2007)

Inhibition of mitochondrial function by metformin increases glucose uptake, glycolysis and GDF-15 release from intestinal cells
por: Yang, Ming, et al.
Publicado: (2021)

Puberty and Pubertal Growth in Healthy Turkish Girls: No evidence for secular trend
por: Bundak, Rüveyde, et al.
Publicado: (2008)

Puberty from bench to clinic: Lessons for clinical management of pubertal disorders
por: Chowdhury, Subhankar
Publicado: (2018)

Genetics of pubertal delay
por: Saengkaew, Tansit, et al.
Publicado: (2021)

ENDO-ERN expert opinion on the differential diagnosis of pubertal delay
por: Persani, Luca, et al.
Publicado: (2021)

Murine neuronatin deficiency is associated with a hypervariable food intake and bimodal obesity
por: Cimino, Irene, et al.
Publicado: (2021)

Changes in pubertal hormones, neurotransmitters and sleep patterns during sleep in girls with precocious puberty
por: Betul, Ersoy, et al.
Publicado: (2013)

Review of the Literature on Current Changes in the Timing of Pubertal Development and the Incomplete Forms of Early Puberty
por: Farello, Giovanni, et al.
Publicado: (2019)

Altered Brain Structure and Functional Connectivity Associated with Pubertal Hormones in Girls with Precocious Puberty
por: Chen, Tao, et al.
Publicado: (2019)

Critical body fat percentage required for puberty onset: the Taiwan Pubertal Longitudinal Study
por: Huang, L., et al.
Publicado: (2022)

Letrozole Monotherapy in Pre- and Early-Pubertal Boys Does Not Increase Adult Height
por: Varimo, Tero, et al.
Publicado: (2019)

Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty
por: Saengkaew, Tansit, et al.
Publicado: (2021)

SUN-LB107 Functional Characterisation of Human Heterozygous Non-Synonymous MC3R Variants
por: Melvin, Audrey, et al.
Publicado: (2020)

Visceral fat thickness and its associations with pubertal and metabolic parameters among girls with precocious puberty
por: Kim, Dong Wook, et al.
Publicado: (2018)

Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism
por: Aung, Yuri, et al.
Publicado: (2023)

Anatomía de Gardner
por: O'Rahilly, Ronan
Publicado: (1989)

“Treasure Your Exceptions”—Studying Human Extreme Phenotypes to Illuminate Metabolic Health and Disease: The 2019 Banting Medal for Scientific Achievement Lecture
por: O’Rahilly, Stephen
Publicado: (2021)

Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity
por: Liang, Zhengzheng S., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_2kegbug87aunvn3u63r6j3trml