相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis
Marina Yukina et al.
ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS (2021)
Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report
Ruizhi Jiajue et al.
CALCIFIED TISSUE INTERNATIONAL (2020)
Transforming growth factor-beta in tissue fibrosis
Nikolaos G. Frangogiannis
JOURNAL OF EXPERIMENTAL MEDICINE (2020)
Hepatic Steatosis Resulting From LMNA-Associated Familial Lipodystrophy
Layth Mahdi et al.
ACG CASE REPORTS JOURNAL (2020)
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation
Silvia Magno et al.
JOURNAL OF THE ENDOCRINE SOCIETY (2020)
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant
Iram Hussain et al.
JOURNAL OF THE ENDOCRINE SOCIETY (2020)
Diffuse, mottled hyperpigmentation and mutations in LMNA gene in a 5-year-old boy, his mother, and his grandmother: Atypical progeroid syndrome
Brittney Schultz et al.
PEDIATRIC DERMATOLOGY (2019)
Early podocyte injury and elevated levels of urinary podocyte-derived extracellular vesicles in swine with metabolic syndrome: role of podocyte mitochondria
Li-Hong Zhang et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2019)
A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation
Iram Hussain et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)
The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature
Ru-Xuan Chen et al.
BMC NEPHROLOGY (2018)
Lipodystrophic laminopathies: Diagnostic clues
Cristina Guillin-Amarelle et al.
NUCLEUS (2018)
An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome
Karim Harhouri et al.
NUCLEUS (2018)
Lipodystrophic laminopathies: Diagnostic clues
Cristina Guillin-Amarelle et al.
NUCLEUS (2018)
An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome
Karim Harhouri et al.
NUCLEUS (2018)
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA
Xiao Yanhua et al.
FRONTIERS IN ENDOCRINOLOGY (2018)
Extracellular matrix remodeling and transforming growth factor-β signaling abnormalities induced by lamin A/C variants that cause lipodystrophy
Caroline Le Dour et al.
JOURNAL OF LIPID RESEARCH (2017)
A Phase 2, Double-Blind, Placebo-Controlled, Randomized Study of Fresolimumab in Patients With Steroid-Resistant Primary Focal Segmental Glomerulosclerosis
Flavio Vincenti et al.
KIDNEY INTERNATIONAL REPORTS (2017)
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation
Athanasios Fountas et al.
ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS (2017)
Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort
Nevin Ajluni et al.
CLINICAL ENDOCRINOLOGY (2017)
Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells
Dido Carrero et al.
DISEASE MODELS & MECHANISMS (2016)
Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome
Seungbok Lee et al.
JOURNAL OF DERMATOLOGY (2015)
First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation
Sei-ichiro Motegi et al.
JOURNAL OF DERMATOLOGY (2014)
The nuclear lamins: flexibility in function
Brian Burke et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2013)
Cosegregation of Focal Segmental Glomerulosclerosis in a Family with Familial Partial Lipodystrophy due to a Mutation in LMNA
Kah Mean Thong et al.
NEPHRON CLINICAL PRACTICE (2013)
An inherited LMNA gene mutation in atypical Progeria syndrome
Yassamine Doubaj et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Nuclear lamina at the crossroads of the cytoplasm and nucleus
Larry Gerace et al.
JOURNAL OF STRUCTURAL BIOLOGY (2012)
Smads as therapeutic targets for chronic kidney disease
Hui Yao Lan
KIDNEY RESEARCH AND CLINICAL PRACTICE (2012)
A phase 1, single-dose study of fresolimumab, an anti-TGF-β antibody, in treatment-resistant primary focal segmental glomerulosclerosis
Howard Trachtman et al.
KIDNEY INTERNATIONAL (2011)
Effects of TGF-beta on Podocyte Growth and Disease Progression in Proliferative Podocytopathies
Hyun Soon Lee et al.
KIDNEY & BLOOD PRESSURE RESEARCH (2010)
Lamin-binding Proteins
Katherine L. Wilson et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2010)
Diseases of the Nuclear Envelope
Howard J. Worman et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2010)
Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance
Lili Liang et al.
ACTA PAEDIATRICA (2009)
Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
Abhimanyu Garg et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease
Dimitri Renard et al.
STROKE (2009)
Novel LMNA Gene Mutation in a Patient With Atypical Werner's Syndrome
Yun Jeong Doh et al.
KOREAN JOURNAL OF INTERNAL MEDICINE (2009)
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease
Hitomi Imachi et al.
ENDOCRINE (2009)
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C
Julia Rankin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Tethering by lamin A stabilizes and targets the ING1 tumour suppressor
Xijing Han et al.
NATURE CELL BIOLOGY (2008)
Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging
Ignacio Varela et al.
NATURE MEDICINE (2008)
Phenotype and course of Hutchinson-Gilford progeria syndrome
Melissa A. Merideth et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Laminopathies: A wide spectrum of human diseases
Howard J. Worman et al.
EXPERIMENTAL CELL RESEARCH (2007)
Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging
Thomas Dechat et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Hutchinson-Gifford Progeria syndrome: Review of the phenotype
Raoul C. M. Hennekam
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A
Yiyong Liu et al.
JOURNAL OF CELL SCIENCE (2006)
Molecular bases of progeroid syndromes
Claire L. Navarro et al.
HUMAN MOLECULAR GENETICS (2006)
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging
Dale K. Shumaker et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
The truncated prelamin A in Hutchinson-Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers
E Delbarre et al.
HUMAN MOLECULAR GENETICS (2006)
A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C
C Ivorra' et al.
GENES & DEVELOPMENT (2006)
A-type lamins are essential for TGF-β1 induced PP2A to dephosphorylate transcription factors
JH Van Berlo et al.
HUMAN MOLECULAR GENETICS (2005)
Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes
JI Toth et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome)
KR Owen et al.
NEPHRON CLINICAL PRACTICE (2004)
Lamin A truncation in Hutchinson-Gilford progeria
A De Sandre-Giovannoli et al.
SCIENCE (2003)
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
M Eriksson et al.
NATURE (2003)
Activation of the TGF-beta/Smad signaling pathway in focal segmental glomerulosclerosis
JH Kim et al.
KIDNEY INTERNATIONAL (2003)
分享论文
