Looking for the skeleton in the closet—rare genetic diagnoses in patients with diabetes and skeletal manifestations

A novel AGPAT2 mutation associated with a case of late-diagnosed congenital generalized lipodystrophy type 1

(2021) Nevena Chakarova et al.   ACTA DIABETOLOGICA

BEYOND BODY MASS INDEX - BODY COMPOSITION ASSESSMENT BY BIOIMPEDANCE IN ROUTINE ENDOCRINE PRACTICE

(2021) Avivit Brener et al.   Endocrine Practice

A Rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy

(2020) Kobi Gorin et al.   CLINICAL ENDOCRINOLOGY

Studies of insulin and proinsulin in pancreas and serum support the existence of aetiopathological endotypes of type 1 diabetes associated with age at diagnosis

(2020) Pia Leete et al.   DIABETOLOGIA

Coordination of mRNA and tRNA methylations by TRMT10A

(2020) R. Jordan Ontiveros et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Treatment Options for MODY Patients: A Systematic Review of Literature

(2020) Maurizio Delvecchio et al.   Diabetes Therapy

tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly

(2020) Hu Lin et al.   BMJ Open Diabetes Research & Care

Hyperglycemia and diabetes induced by glucocorticoids in nondiabetic and diabetic patients: revision of literature and personal considerations

(2019) Ceccarelli Elena et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Altered adipose tissue and adipocyte function in the pathogenesis of metabolic syndrome

(2019) C. Ronald Kahn et al.   JOURNAL OF CLINICAL INVESTIGATION

Introducing the Endotype Concept to Address the Challenge of Disease Heterogeneity in Type 1 Diabetes

(2019) Manuela Battaglia et al.   DIABETES CARE

Serum uric acid and progression of diabetic nephropathy in type 1 diabetes

(2018) S. Pilemann-Lyberg et al.   JOURNAL OF DIABETES AND ITS COMPLICATIONS

Pancreatic β-cell tRNA hypomethylation and fragmentation link TRMT10A deficiency with diabetes

(2018) Cristina Cosentino et al.   NUCLEIC ACIDS RESEARCH

Genetics of Lipodystrophy

(2017) Marissa Lightbourne et al.   ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA

Incidence Trends of Type 1 and Type 2 Diabetes among Youths, 2002–2012

(2017) Elizabeth J. Mayer-Davis et al.   NEW ENGLAND JOURNAL OF MEDICINE

Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes

(2016) Maggie Shepherd et al.   DIABETES CARE

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline

(2016) Rebecca J. Brown et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases

(2016) Stephanie Teboul-Coré et al.   SKELETAL RADIOLOGY

Reversine increases the plasticity of lineage-committed preadipocytes to osteogenesis by inhibiting adipogenesis through induction of TGF-β pathway in vitro

(2014) Jeong Geun Park et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Transforming Growth Factor β-Mediated Suppression of Antitumor T Cells Requires FoxP1 Transcription Factor Expression

(2014) Tom L. Stephen et al.   IMMUNITY

Elimination of Pain and Improvement of Exercise Capacity in Camurati-Engelmann Disease With Losartan

(2014) Ahila Ayyavoo et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly

(2014) David Gillis et al.   JOURNAL OF MEDICAL GENETICS

TGF-β1 enhances SDF-1-induced migration and tube formation of choroid-retinal endothelial cells by up-regulating CXCR4 and CXCR7 expression

(2014) Yi-fan Feng et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

ALK5-Mediated Transforming Growth Factor β Signaling in Neural Crest Cells Controls Craniofacial Muscle Development via Tissue-Tissue Interactions

(2014) Arum Han et al.   MOLECULAR AND CELLULAR BIOLOGY

Transforming growth factor beta 1 induces CXCL16 and leukemia inhibitory factor expression in osteoclasts to modulate migration of osteoblast progenitors

(2013) Kuniaki Ota et al.   BONE

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

(2013) S. Ellard et al.   DIABETOLOGIA

Unexpected expansion of tRNA substrate recognition by the yeast m1G9 methyltransferase Trm10

(2013) W. E. Swinehart et al.   RNA

tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans

(2013) Mariana Igoillo-Esteve et al.   PLoS Genetics

Alterations in Lipid Signaling Underlie Lipodystrophy Secondary to AGPAT2 Mutations

(2012) A. R. Subauste et al.   DIABETES

MODOMICS: a database of RNA modification pathways—2013 update

(2012) Magdalena A. Machnicka et al.   NUCLEIC ACIDS RESEARCH

Human 1-Acylglycerol-3-phosphateO-Acyltransferase Isoforms 1 and 2

(2011) Anil K. Agarwal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rationale for Leptin-Replacement Therapy for Severe Lipodystrophy

(2010) Elif Oral et al.   Endocrine Practice

Circulating Transforming Growth Factor-β in Marfan Syndrome

(2009) Peter Matt et al.   CIRCULATION

Stearoyl-Coenzyme A Desaturase 1 Gene Expression Increases after Pioglitazone Treatment and Is Associated with Peroxisomal Proliferator-Activated Receptor-γ Responsiveness

(2008) Aiwei Yao-Borengasser et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM