Results 61 to 70 of about 3,357,239 (197)

Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

BMC Musculoskeletal Disorders, 2021
Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature,
Samina Yasin, Outi Makitie, Sadaf Naz
doaj   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

Genetic Evaluation of Idiopathic Short Stature

, 2021
Introduction: Short stature is a multifactorial condition causedby both genetic and environmental factors. Genetic causes includechromosomal disorders and diseases inherited by monogenic andmultifactorial inheritance.
Uyguner, Zehra Oya, Basaran, Seher, Şahin, Avcı, Al, Asli Derya Kardelen, Toksoy, Guven, Poyrazoglu, Sukran, Bas, Firdevs, Najafli, Adam, Karaman, Birsen, Altunoglu, Umut, Avci, Sahin, Darendeliler, Feyza, Najaflı, A   +12 more
core  

Cumulative effects of lifelong systemic excess growth hormone on postcranial skeletal morphology in adult mice

Journal of Anatomy, EarlyView.
Our μCT‐based pilot study reveals size and shape disparity in the adult postcranial skeleton of growth‐hormone model (bGH) mice relative to wild‐type mice. bGH mice have larger and more sexually dimorphic bones, with a systemic radiodensity increase in bony sesamoids and associated, but typically uncalcified, soft tissues.
Joseph R. Groenke, Huanhuan Liu, Grace Lach, Abhishek Wajpe, Darlene Berryman, John J. Kopchick, Shouan Zhu, Patrick M. O'Connor   +7 more
wiley   +1 more source

Common polymorphisms of growth hormone: Growth hormone receptor axis in Turkish children with short stature [PDF]

, 2022
Objective: A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to
Yıldız, Metin, Yildiz, Metin, Yılmaz Güleç, Elif, Ercan, Oya, Erdal Adal, Servet, Adal, Servet Erdal, Buyru, Ayşe Nur, Deviren, Ayhan, Nur Buyru, Ayşe, Gulec, Elif Yilmaz   +9 more
core   +1 more source

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

, 2017
Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the identification of the underlying cause in about 80% of the patients. Recently, heterozygous mutations in
Sangamitra Boppudi, Cornelia Kraus, Steffen Uebe, Anna-Maria Jung, André Reis, Udo Trautmann, Heinrich Sticht, Jaqueline Kelkel, Dagmar Wieczorek, Nadine N. Hauer, Christian T. Thiel, Martin Zenker, Antje Wiesener, Christiane Zweier, Rami Abou Jamra, Arif. B Ekici, Christian Büttner, Tilman Rohrer, Helmuth-Günther Dörr   +18 more
core   +1 more source

저신장 소아청소년의 임상적 접근

The Ewha Medical Journal, 2021
Growth represents a sentinel for general health state in children and adolescent. Linear growth in children and adolescent is a complex process influenced by numerous factors including genetic, prenatal, postnatal, and environmental factors.

doaj   +1 more source

European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy

Journal of Internal Medicine, EarlyView.
Abstract Lipodystrophy comprises a heterogeneous group of disorders characterized by reduced adipose tissue often associated with severe metabolic complications. Lipodystrophy may be genetic, acquired, or secondary to medical therapies initiated for other conditions.
Robert K. Semple, Martin Wabitsch, Baris Akinci, Saif Alyaarubi, Marjoleine F. Broekema, Rebecca J. Brown, Giovanni Ceccarini, Carolina Cecchetti, Solaf M. Elsayed, Antía Fernández‐Pombo, Alessandra Gambineri, Ingrid M. Jazet, Lotte Kleinendorst, Konstanze Miehle, Elif A. Oral, Flavia Prodam, Ferruccio Santini, David B. Savage, Nadia Shaukat Ali, Ekaterina Sorkina, Magdalena Szopa, Marie‐Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Julia von Schnurbein, David Araújo‐Vilar   +25 more
wiley   +1 more source

Children With Short Stature Display Reduced ACE2 Expression in Peripheral Blood Mononuclear Cells

Frontiers in Endocrinology, 2022
BackgroundThe cause of short stature remains often unknown. The renin-angiotensin system contributes to growth regulation. Several groups reported that angiotensin-converting enzyme 2 (ACE2)-knockout mice weighed less than controls.
Federica Tonon, Gianluca Tornese, Fabiola Giudici, Francesca Nicolardi, Barbara Toffoli, Egidio Barbi, Egidio Barbi, Bruno Fabris, Bruno Fabris, Stella Bernardi, Stella Bernardi   +10 more
doaj   +1 more source

Iron and Other Metal Ions in Human Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
wiley   +1 more source