Results 161 to 170 of about 584,122 (264)

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source

Relationship between kisspeptin-10, neurokinin B and dynorphin A in the course of normal and delayed puberty in ewes. [PDF]

J Vet Res
Szysiak N, Kosior-Korzecka U, Greguła-Kania M, Patkowski K, Fila M, Junkuszew A.   +5 more
europepmc   +1 more source

Prevalence of delayed puberty and low bone density in patients with epidermolysis bullosa: Insight from a large single center's experience. [PDF]

Pediatr Dermatol, 2023
Wasserman H, Dumenigo A, Hornung L, Augsburger B, Marathe K, Lucky AW.   +5 more
europepmc   +1 more source

GLP‐1–Based Therapy in Type 1 Diabetes: Balancing Efficacy, Safety, and Patient Selection

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims To critically examine the evolving evidence on glucagon‐like peptide‐1 receptor agonists (GLP‐1RAs) and the dual glucose‐dependent insulinotropic polypeptide (GIP)/GLP‐1 receptor agonist tirzepatide as adjuncts to insulin therapy in type 1 diabetes (T1D), with particular emphasis on their benefit–risk balance in individuals with ...
Thales Rossatto, Ricardo de Andrade Oliveira, Andréia Machado Cardoso   +2 more
wiley   +1 more source

Parental Experiences Addressing Sexual Health Among Adolescents With Autism Spectrum Disorder

Family Relations, EarlyView.
ABSTRACT Objective To explore parents' experiences addressing sexual health among adolescents with autism spectrum disorder (ASD) in northeastern Malaysia. Background Parents are central to sexual health guidance but may face developmental, communication, sociocultural, and service‐related challenges.
Ahmad Firdaus Mohamed, Raishan Shafini Bakar, Maruzairi Husain, Najib Majdi Yaacob, Mohd Ismail Ibrahim   +4 more
wiley   +1 more source

Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty. [PDF]

Eur J Endocrinol
Rezende RC, He W, Kaisinger LR, Lerario AM, Schafer EC, Kentistou KA, Barroso PS, Andrade NLM, Dantas NCB, Costa EMF, Cellin LP, P S Quedas E, Seminara SB, Rey RA, Grinspon RP, Meriq V, Ong KK, Latronico AC, Perry JRB, Howard SR, Chan YM, Jorge AAL, Delayed Puberty Genetics Consortium .   +22 more
europepmc   +1 more source

Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea. [PDF]

Mol Genet Genomic Med, 2021
Sassi A, Sassi A, Désir J, Duerinckx S, Soblet J, Van Dooren S, Bonduelle M, Abramowicz M, Delbaere A.   +8 more
europepmc   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

Chronic sleep deprivation is associated with delayed puberty onset in rats, activation of proinflammatory cytokines and gut dysbiosis. [PDF]

PeerJ
Gunawan SP, Huang SY, Hsu JW, Lin CY, Nguyen NN, Tung TH, Liang SL, Lee GA, Su CT, Chen YC.   +9 more
europepmc   +1 more source

Understanding the Experiences of Young People Living With Haemophilia—A UK Social Media Study

Haemophilia, EarlyView.
ABSTRACT Introduction Haemophilia is a rare congenital bleeding disorder that presents significant physical and psychological challenges, especially for young people, with limited real‐world evidence about their experiences in the UK. Aim This study sought to understand the perspectives and challenges of young people living with haemophilia in the UK ...
Emma Gayton, Ranjit Nagra, Bekki Millward, Erin Plummer, Laura Galimam, Alex Dowsett, Nikki Curry   +6 more
wiley   +1 more source