ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

Page 18 of about 424 results

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), <...
0 shares

ey0017.5-12 | Advances in Skeletal Biology | ESPEYB17

5.12. Lipid availability determines fate of skeletal progenitor cells via SOX9

N van Gastel , S Stegen , G Eelen , S Schoors , A Carlier , VW Daniels , N Baryawno , D Przybylski , M Depypere , PJ Stiers , D Lambrechts , R Van Looveren , S Torrekens , A Sharda , P Agostinis , D Lambrechts , F Maes , JV Swinnen , L Geris , H Van Oosterwyck , B Thienpont , P Carmeliet , DT Scadden , G Carmeliet

To read the full abstract: Nature 2020;579:111–117.In brief: In large fracture calluses, skeletal progenitors activate the chondrogenesis program, whereas in smaller calluses, direct osteogenesis is the preferred path. Here, the authors show that lipid availability determines whether skeletal stem cells repair a fracture through endochondral bone formation or direct ossificati...
0 shares

ey0017.6-9 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

JJ Hughes , E Alkhunaizi , P Kruszka , LC Pyle , DK Grange , SI Berger , KK Payne , D Masser-Frye , T Hu , MR Christie , NJ Clegg , JL Everson , AF Martinez , LE Walsh , E Bedoukian , MC Jones , CJ Harris , KM Riedhammer , D Choukair , PY Fechner , MM Rutter , SB Hufnagel , M Roifman , GB Kletter , E Delot , E Vilain , RJ Lipinski , CM Vezina , M Muenke , D Chitayat

To read the full abstract: Am J Hum Genet. 2020, Jan 2; 106: 121-8. doi: https://www.cell.com/ajhg/pdf/S0002-9297(19)30468-9.pdfProtein phosphatase 1, regulatory subunit 12a (PPP1R12A) is an important developmental factor involved in cell migration, adhesion, and morphogenesis. It is involved in the formation of myosin phosphatase and is regulated by phosphorylation.<p cla...
0 shares

ey0016.3-12 | New Genes | ESPEYB16

3.12. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

A Stoupa , F Adam , D Kariyawasam , C Strassel , S Gawade , G Szinnai , A Kauskot , D Lasne , C Janke , K Natarajan , A Schmitt , C Bole-Feysot , P Nitschke , J Leger , F Jabot-Hanin , F Tores , A Michel , A Munnich , C Besmond , R Scharfmann , F Lanza , D Borgel , M Poalk , A Carre

To read the full abstract: EMBO Mol Med 2018;e9569:1–18TUBB1 encodes a member of the beta-tubulin protein family. Beta-tubulins and alpha-tubulins form dimers, which assemble into microtubules belonging to the intracellular cytoskeleton structure.The authors identified three different mutations in TUBB1 by whole exome sequencing in a large co...
0 shares

ey0015.2-9 | MEHMO syndrome is a novel X-linked retardation syndrome associated with neonatal hypoglycaemia, hypopituitarism and early onset diabetes mellitus | ESPEYB15

2.9 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

M Skopkova , F Hennig , BS Shin , CE Turner , D Stanikova , K Brennerova , J Stanik , U Fischer , L Henden , U Müller , D Steinberger , E Leshinsky-Silver , A Bottani , T Kurdiova , J Ukropec , O Nyitrayova , M Kolnikova , I Klimes , G Borck , M Bahlo , SA Haas , JR Kim , LE Lotspeich-Cole , D Gasperikova , TE Dever , VM Kalscheuer

To read the full abstract: Hum Mutat 2017 Apr;38(4):409-425See Comment under 2.10...
0 shares

ey0015.14-10 | CRISPR-Cas9 gene therapy | ESPEYB15

14.10 Correction of a pathogenic gene mutation in human embryos

H Ma , N Marti-Gutierrez , SW Park , J Wu , Y Lee , K Suzuki , A Koski , D Ji , T Hayama , R Ahmed , H Darby , C Van Dyken , Y Li , E Kang , AR Park , D Kim , ST Kim , J Gong , Y Gu , X Xu , D Battaglia , SA Krieg , DM Lee , DH Wu , DP Wolf , SB Heitner , JCI Belmonte , P Amato , JS Kim , S Kaul , S Mitalipov

To read the full abstract: Nature 2017;548:413-419Over recent years, the Yearbook has followed the rapid advances in CRISPR-Cas9 gene editing technology, initially as a widely adopted research tool, but also as an emerging form of gene therapy. Here, Ma et al. report the first use of CRISPR–Cas9 to efficiently and safely correct a pathogenic heterozygous mutation in human embryos. The...
0 shares

ey0020.10-12 | Dyslipidemia | ESPEYB20

10.12. Bempedoic acid and cardiovascular outcomes in statin-intolerant patients

SE Nissen , AM Lincoff , D Brennan , KK Ray , D Mason , JJP Kastelein , PD Thompson , P Libby , L Cho , J Plutzky , HE Bays , PM Moriarty , V Menon , DE Grobbee , MJ Louie , CF Chen , N Li , L Bloedon , P Robinson , M Horner , WJ Sasiela , J McCluskey , D Davey , P Fajardo-Campos , P Petrovic , J Fedacko , W Zmuda , Y Lukyanov , SJ Nicholls , CLEAR Outcomes Investigators Nicholls

Brief summary: In this double-blind, randomized, placebo-controlled trial, bempedoic acid (Nexletol) reduced the incidence of a composite cardiovascular.Comment: Bempedoic acid is an ATP citrate lyase inhibitor. ATP citrate lyase catalyses the conversion of citrate to acetyl-CoA, the fundamental substrate required for the synthesis of cholesterol and fatty acids. By inhibiting the cholesterol synthesis pathway, bempedoic acid reduces intra-hepatic LDL-C....
1 shares

ey0018.2-9 | Neonatal diabetes mellitus | ESPEYB18

2.9. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

R Bonfanti , D Iafusco , I Rabbone , G Diedenhofen , C Bizzarri , PI Patera , P Reinstadler , F Costantino , V Calcaterra , L Iughetti , S Savastio , A Favia , F Cardella , D Lo Presti , Y Girtler , S Rabbiosi , G D'Annunzio , A Zanfardino , A Piscopo , F Casaburo , L Pintomalli , L Russo , V Grasso , N Minuto , M Mucciolo , A Novelli , A Marucci , B Piccini , S Toni , F Silvestri , P Carrera , A Rigamonti , G Frontino , M Trada , D Tinti , M Delvecchio , N Rapini , R Schiaffini , C Mammi , F Barbetti

Eur J Endocrinol. 2021 Apr;184(4):575–585. doi: 10.1530/EJE-20-1030. PMID: 33606663.These authors examined the likelihood of remission of diabetes without pharmacological therapy in a retrospective analysis of 34 Italian patients with Transient neonatal diabetes (TNDM).TNDM is a type of neonatal diabetes that remits within the first a few months of life. It is most ...
0 shares

ey0017.11-16 | Consensus Statement | ESPEYB17

11.16. Joint international consensus statement for ending stigma of obesity

F Rubino , RM Puhl , DE Cummings , RH Eckel , DH Ryan , JI Mechanick , J Nadglowski , X Ramos Salas , PR Schauer , D Twenefour , CM Apovian , LJ Aronne , RL Batterham , HR Berthoud , C Boza , L Busetto , D Dicker , M De Groot , D Eisenberg , SW Flint , TT Huang , LM Kaplan , JP Kirwan , J Korner , TK Kyle , B Laferrere , CW le Roux , L McIver , G Mingrone , P Nece , TJ Reid , AM Rogers , M Rosenbaum , RJ Seeley , AJ Torres , JB Dixon

To read the full abstract: Nat Med 2020;26(4):485–497.More than 100 medical and scientific organizations supported this international consensus statement, which describes impressively how unscientific public narratives of obesity cause weight stigma and stimulates discrimination of obese people. Consequently, the statement calls for strong policies and legislation to prevent weight-bas...
0 shares

ey0020.9-2 | New Findings in Adipose Tissue | ESPEYB20

9.2. A single-cell atlas of human and mouse white adipose tissue

M Emont , C Jacobs , AL Essene , D Pant , D Tenen , G Colleluori , A Di Vincenzo , AM Jorgensen , H Dashti , A Stefek , E McGonagle , S Strobel , S Laber , S Agrawal , GP Westcott , A Kar , ML Veregge , A Gulko , H Srinivasan , Z Kramer , E De Felippis , E Merkel , J Ducie , CG Boyd , W Gourash , A Courcoulas , SJ Lin , BT Lee , D Morris , A Tobias , AV Khera , M Claussnitzer , TH Pers , A Giodano , O Askenberg , A Regev , LT Tsai , ED Rosen

Brief summary: Emont et al. created a cell atlas of human and mouse white adipose tissue, which goes a long way in informing our understanding of the complexity of adipose tissue.Although adipocytes make up the largest proportion of adipose tissue volume, the cellular structure of adipose tissue is far more complex and includes adipose tissue progenitor cells (APCs), fibroblasts, vascular cells and immune cells. We are also beginning to understa...
0 shares

Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more