ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 1 of about 13 results

ey0018.15-6 | (1) | ESPEYB18

15.6. The gut-brain axis mediates sugar preference

Tan Hwei-Ee , Sisti Alexander C , Jin Hao , Vignovich Martin , Villavicencio Miguel , Tsang Katherine S , Goffer Yossef , Zuker Charles S

Nature, 2020. 580, 511–516.https://www.nature.com/articles/s41586-020-2199-7 The authors identify in mice a population of neurons in the vagal ganglia and brainstem that are activated by the direct delivery of sugar but not artificial sweeteners to the gut. They genetically engineered changes in this gut-to-brain circuit. Silencing of synaptic activity in this circuit prevented...
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ey0016.1-6 | New Mechanisms | ESPEYB16

1.6. Regulation of feeding by somatostatin neurons in the tuberal nucleus

SX Luo , J Huang , Q Li , H Mohammad , CY Lee , K Krishna , AM Kok , YL Tan , JY Lim , H Li , LY Yeow , J Sun , M He , J Grandjean , S Sajikumar , W Han , Y Fu

To read the full abstract: Science 2018;361:76–81.The tuberal nucleus (TN) is a hypothalamic region which is well described in humans but remains poorly defined in rodents. In this paper, the authors demonstrated by specific and sophisticated techniques the role of somatostatin expressing TN (TNSST) neurons in the control of food intake in mice. Interestingly, their resul...
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ey0016.6-3 | New Functions of (Old) Genes | ESPEYB16

6.3. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

B Croft , T Ohnesorg , J Hewitt , J Bowles , A Quinn , J Tan , V Corbin , E Pelosi , J van den Bergen , R Sreenivasan , I Knarston , G Robevska , DC Vu , J Hutson , V Harley , K Ayers , P Koopman , A Sinclair

Nat Commun. 2018 Dec 14;9(1):5319.doi: 10.1038/s41467-018-07784-9. PubMed [citation] PMID: 30552336Initial steps in the sex determination of the (human) testis depend on SRY regulating SOX9, but the exact mechanism that controls SOX9 expression remains unknown. These authors discovered four overlapping copy number variations (CNVs) upstr...
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ey0015.13-6 | How does paediatric endocrinology and diabetes fit in the global initiatives? | ESPEYB15

13.6 Improving pathology and laboratory medicine in low-income and middle-income countries: roadmap to solutions

S Sayed , W Cherniak , M Lawler , SY Tan , W El Sadr , N Wolf , S Silkensen , N Brand , LM Looi , SA Pai , ML Wilson , D Milner , J Flanigan , KA Fleming

To read the full abstract: Lancet 2018; 391(10133):1939-1952See comment on 13.7...
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ey0018.14-11 | (1) | ESPEYB18

14.11. Ageing hallmarks exhibit organ-specific temporal signatures

Schaum Nicholas , Lehallier Benoit , Hahn Oliver , Palovics Robert , Hosseinzadeh Shayan , Lee Song E , Sit Rene , Lee Davis P , Losada Patricia Moran , Zardeneta Macy E , Fehlmann Tobias , Webber James T , McGeever Aaron , Calcuttawala Kruti , Zhang Hui , Berdnik Daniela , Mathur Vidhu , Tan Weilun , Zee Alexander , Tan Michelle , The Tabula Muris Consortium , Pisco Angela Oliveira , Karkanias Jim , Neff Norma F , Keller Andreas , Darmanis Spyros , Quake Stephen R , Wyss-Coray Tony

Nature 2020; 583: 596–602https://www.nature.com/articles/s41586-020-2499-yIn order to understand the cellular processes that underlie ageing, the authors performed plasma proteomics at 10 different ages across the lifespan of the mouse. They integrated these data with a parallel large study published alongside this paper in the same edition (1), which describes the ‘Mouse ...
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ey0018.1-7 | Development/Ontogeny | ESPEYB18

1.7. Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

A Gualtieri , N Kyprianou , LC Gregory , ML Vignola , JG Nicholson , R Tan , SI Inoue , V Scagliotti , P Casado , J Blackburn , F Abollo-Jimenez , E Marinelli , REJ Besser , W Hogler , I Karen Temple , JH Davies , A Gagunashvili , ICAF Robinson , SA Camper , SW Davis , PR Cutillas , EF Gevers , Y Aoki , MT Dattani , C Gaston-Massuet

Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4. PMID: 33795686.The authors describe 5 patients with Cardio-Facio-Cutaneous (CFC) syndrome with features of septo−optic dysplasia (SOD), and GH/IGF−1 deficiency of variable degree. All were identified to carry a gain−of−function mutation in BRAF.RASopathies encompass Noonan ...
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ey0019.6-6 | Basic and Genetic Research of DSD | ESPEYB19

6.6. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37

H Zidoune , L Martinerie , DS Tan , M Askari , D Rezgoune , A Ladjouze , A Boukri , Y Benelmadani , K Sifi , N Abadi , D Satta , M Rastari , M Seresht-Ahmadi , J Bignon-Topalovic , I Mazen , J Leger , D Simon , R Brauner , M Totonchi , R Jauch , A Bashamboo , K McElreavey

Sex Dev. 2021;15(4):244-252. PMID: 34293745, doi: 10.1159/000515924.Brief Summary: This genetic study provides data of a large cohort of 140 patients with DSD who were screened for DHX37 variants.DHX37 emerges as a frequent cause of nonsyndromic 46,XY gonadal dysgenesis, and 46,XY testicular regression syndrome. Since the first description of the gene (1), <...
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ey0017.6-8 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

K McElreavey , A Jorgensen , C Eozenou , T Merel , J Bignon-Topalovic , DS Tan , D Houzelstein , F Buonocore , N Warr , RGG Kay , M Peycelon , JP Siffroi , I Mazen , JC Achermann , Y Shcherbak , J Leger , A Sallai , JC Carel , L Martinerie , R Le Ru , GS Conway , B Mignot , L Van Maldergem , R Bertalan , E Globa , R Brauner , R Jauch , S Nef , A Greenfield , A Bashamboo

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...
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ey0015.8-1 | Mechanism of the Year | ESPEYB15

8.1 CLCN2 chloride channel mutations in familial hyperaldosteronism type II

UI Scholl , G Stölting , J Schewe , A Thiel , H Tan , C Nelson-Williams , AA Vichot , SC Jin , E Loring , V Untiet , T Yoo , J Choi , S Xu , A Wu , M Kirchner , P Mertins , LC Rump , AM Onder , C Gamble , D McKenney , RW Lash , DP Jones , G Chune , P Gagliardi , M Choi , R Gordon , M Stowasser , C Fahlke , RP Lifton

To read the full abstract: Nat Genet. 2018; 50(3): 349-354See comment on 8.2...
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ey0020.12-5 | Genetics | ESPEYB20

12.5. Perspectives of rare disease experts on newborn genome sequencing

NB Gold , SM Adelson , N Shah , S Williams , SL Bick , ES Zoltick , JI Gold , A Strong , R Ganetzky , AE Roberts , M Walker , AM Holtz , VG Sankaran , O Delmonte , W Tan , IA Holm , JR Thiagarajah , J Kamihara , J Comander , E Place , J Wiggs , RC Green

Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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