Search details
1.
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Am J Med Genet A
; 194(6): e63533, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38234231
2.
Lipodystrophy for the Diabetologist-What to Look For.
Curr Diab Rep
; 22(9): 461-470, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35821558
3.
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
Am J Hum Genet
; 103(6): 968-975, 2018 12 06.
Article
in English
| MEDLINE | ID: mdl-30414627
4.
A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.
J Med Genet
; 57(6): 422-426, 2020 06.
Article
in English
| MEDLINE | ID: mdl-31857427
5.
Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia.
N Engl J Med
; 376(17): 1647-1658, 2017 04 27.
Article
in English
| MEDLINE | ID: mdl-28402248
6.
Insights into lipid accumulation in skeletal muscle in dysferlin-deficient mice.
J Lipid Res
; 60(12): 2057-2073, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31653658
7.
Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C.
Am J Med Genet A
; 173(9): 2517-2521, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28686329
8.
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.
Am J Med Genet A
; 173(1): 190-194, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27862896
9.
Mogat1 deletion does not ameliorate hepatic steatosis in lipodystrophic (Agpat2-/-) or obese (ob/ob) mice.
J Lipid Res
; 57(4): 616-30, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26880786
10.
Hepatic gluconeogenesis is enhanced by phosphatidic acid which remains uninhibited by insulin in lipodystrophic Agpat2-/- mice.
J Biol Chem
; 289(8): 4762-77, 2014 Feb 21.
Article
in English
| MEDLINE | ID: mdl-24425876
11.
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
Am J Med Genet A
; 167A(8): 1796-806, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-25898808
12.
Leptin ameliorates insulin resistance and hepatic steatosis in Agpat2-/- lipodystrophic mice independent of hepatocyte leptin receptors.
J Lipid Res
; 55(2): 276-88, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24293639
13.
A Novel Subtype of Acquired Generalized Lipodystrophy Associated With Subcutaneous Panniculitis-Like T-cell Lymphoma.
JCEM Case Rep
; 2(5): luae069, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38681964
14.
Regulated regeneration of adipose tissue in lipodystrophic Agpat2-null mice partially ameliorates hepatic steatosis.
iScience
; 27(4): 109517, 2024 Apr 19.
Article
in English
| MEDLINE | ID: mdl-38623324
15.
Adipose-specific overexpression of human AGPAT2 in mice causes increased adiposity and mild hepatic dysfunction.
iScience
; 27(1): 108653, 2024 Jan 19.
Article
in English
| MEDLINE | ID: mdl-38274405
16.
Early-onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family.
Mol Genet Genomic Med
; 12(1): e2299, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37815015
17.
PSMB8 encoding the ß5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.
Am J Hum Genet
; 87(6): 866-72, 2010 Dec 10.
Article
in English
| MEDLINE | ID: mdl-21129723
18.
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Nat Genet
; 31(1): 21-3, 2002 May.
Article
in English
| MEDLINE | ID: mdl-11967537
19.
Regulated adipose tissue-specific expression of human AGPAT2 in lipodystrophic Agpat2-null mice results in regeneration of adipose tissue.
iScience
; 26(10): 107806, 2023 Oct 20.
Article
in English
| MEDLINE | ID: mdl-37752957
20.
Autoantibodies to Perilipin-1 Define a Subset of Acquired Generalized Lipodystrophy.
Diabetes
; 72(1): 59-70, 2023 01 01.
Article
in English
| MEDLINE | ID: mdl-35709010