A New HomozygousIGF1RVariant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome

Rejuvenating somatotropic signaling: a therapeutical opportunity for premature aging?

(2016) Alejandro P. Ugalde et al.   Aging-US

PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

(2013) Christel Thauvin-Robinet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PIK3R1 Cause SHORT Syndrome

(2013) David A. Dyment et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

(2013) Kishan Kumar Chudasama et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Something old, something new and something borrowed: emerging paradigm of insulin-like growth factor type 1 receptor (IGF-1R) signaling regulation

(2013) Leonard Girnita et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations

(2012) Marie-Hélène Gannagé-Yared et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R)

(2011) Peng Fang et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation

(2010) Tillmann Wallborn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Aging Stress Response

(2010) Marcia C. Haigis et al.   MOLECULAR CELL

Premature aging in mice activates a systemic metabolic response involving autophagy induction

(2008) Guillermo Mariño et al.   HUMAN MOLECULAR GENETICS

Autophagy fights disease through cellular self-digestion

(2008) Noboru Mizushima et al.   NATURE