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Yearbook of Paediatric Endocrinology 2020

7. Puberty

Basic Science

ey0017.7-7 | Basic Science | ESPEYB17

7.7. Environmentally relevant perinatal exposures to bisphenol A disrupt postnatal Kiss1/NKB neuronal maturation and puberty onset in female mice

F Ruiz-Pino , D Miceli , D Franssen , MJ Vazquez , A Farinetti , JM Castellano , G Panzica , M Tena-Sempere

To read the full abstract: Environmental health perspectives vol. 127,10 (2019): 107011. doi: https://ehp.niehs.nih.gov/doi/full/10.1289/EHP5570?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmedThis study identifies the effects of exposure to environmentally rel...

ey0017.7-8 | Basic Science | ESPEYB17

7.8. Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells

C Lund , V Yellapragada , S Vuoristo , D Balboa , S Trova , C Allet , N Eskici , K Pulli , P Giacobini , T Tuuri , T Raivio

To read the full abstract: Disease Models & Mechanisms vol. 13,3 dmm040105. 13 Mar. 2020. doi: https://dmm.biologists.org/content/13/3/dmm040105.longThese authors developed an in vitro model to study human GnRH neuron transcriptome during developmental differentiation. Gonadotropin-releasing hormone (GnRH) neurons in the hypothalamus govern t...

ey0017.7-9 | Basic Science | ESPEYB17

7.9. The dynamic transcriptional cell atlas of testis development during human puberty

J Guo , X Nie , M Giebler , H Mlcochova , Y Wang , EJ Grow , Connect Donor , R Kim , M Tharmalingam , G Matilionyte , C Lindskog , DT Carrell , RT Mitchell , A Goriely , JM Hotaling , BR Cairns

To read the full abstract: Cell Stem Cell vol. 26,2 (2020): 262–276.e4. doi: https://www.sciencedirect.com/science/article/pii/S1934590919305235?via%3DihubThis paper describes a transcriptional analysis of human spermatogonial stem cells during puberty and the involvement of testosterone in Sertoli cell maturation.The...

ey0017.7-10 | Basic Science | ESPEYB17

7.10. Microbial reconstitution reverses early female puberty induced by maternal high- fat diet during lactation

M Wang , Y Zhang , D Miller , NO Rehman , X Cheng , JY Yeo , B Joe , JW Hill

To read the full abstract: Endocrinology vol. 161,2 (2020): bqz041. doi: https://academic.oup.com/endo/article/161/2/bqz041/5698115This mouse study demonstrates the influence of maternal nutrition during lactation on offspring gut microbiota and its consequences on metabolism and puberty timing. Childhood obesity is a risk factor for the deve...

ey0017.7-11 | Basic Science | ESPEYB17

7.11. Neuron-derived neurotrophic factor is mutated in congenital hypogonadotropic hypogonadism

A Messina , K Pulli , S Santini , J Acierno , J Kansakoski , D Cassatella , C Xu , F Casoni , SA Malone , G Ternier , D Conte , Y Sidis , J Tommiska , K Vaaralahti , A Dwyer , Y Gothilf , GR Merlo , F Santoni , NJ Niederlander , P Giacobini , T Raivio , N Pitteloud

To read the full abstract: American journal of human genetics vol. 106,1 (2020): 58–70. doi: https://www.sciencedirect.com/science/article/pii/S0002929719304677?via%3DihubBy performing next-generation sequencing in 240 unrelated probands with congenital hypogonadotropic hypogonadism and follow-up in multiple animal models, this study identifies ...

ey0017.7-12 | Basic Science | ESPEYB17

7.12. Hypothalamic miR-30 regulates puberty onset via repression of the puberty-suppressing factor, Mkrn3

V Heras , S Sangiao-Alvarellos , M Manfredi-Lozano , MJ Sanchez-Tapia , F Ruiz- Pino , J Roa , M Lara-Chica , R Morrugares-Carmona , N Jouy , AP Abreu , V Prevot , D Belsham , MJ Vazquez , MA Calzado , L Pinilla , F Gaytan , AC Latronico , UB Kaiser , JM Castellano , M Tena-Sempere

To read the full abstract: PLoS biology vol. 17,11 e3000532. 7 Nov. 2019. doi: https://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.3000532This study unravels the role of the miR-30/Mkrn3 pathway in the hypothalamic regulation of puberty Puberty onset is triggered by a hypothalamic network of interconnected...

ey0017.7-13 | Basic Science | ESPEYB17

7.13. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

B Hollis , FR Day , AS Busch , DJ Thompson , ALG Soares , PRHJ Timmers , A Kwong , DF Easton , PK Joshi , NJ; PRACTICAL Consortium; 23andMe Research Team Timpson , KK Ong , JRB Perry

To read the full abstract: Nature communications vol. 11,1 1536. 24 Mar. 2020. doi: https://www.nature.com/articles/s41467-020-14451-5This multi-trait genome-wide association study (GWAS) for male puberty timing identifies 76 independent signals for puberty timing and highlights relationships with natural hair colour and lifespan. The timing of puber...

ey0017.7-14 | Basic Science | ESPEYB17

7.14. Patterns of aging biomarkers, mortality, and damaging mutations illuminate the beginning of aging and causes of early-life mortality

ED Kinzina , DI Podolskiy , SE Dmitriev , VN Gladyshev

To read the full abstract: Cell Reports vol. 29,13 (2019): 4276–4284.e3. doi: https://www.sciencedirect.com/science/article/pii/S221112471931589X?via%3DihubThis study identifies that aging starts very early in life and is best defined by molecular damage rather than mortality. Clinically, aging is classically defined ...