Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis (Q34474731)

2 August 2017

Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis (English)

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2 August 2017

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Chihiro Ebihara

1

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2 August 2017

Ken Ebihara

2

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2 August 2017

Megumi Aizawa-Abe

3

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2 August 2017

Tomoji Mashimo

4

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2 August 2017

Tsutomu Tomita

5

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2 August 2017

Mingming Zhao

6

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2 August 2017

Valentino Gumbilai

7

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2 August 2017

Toru Kusakabe

8

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2 August 2017

Yuji Yamamoto

9

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2 August 2017

Daisuke Aotani

10

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2 August 2017

Sachiko Yamamoto-Kataoka

11

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2 August 2017

Takeru Sakai

12

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2 August 2017

Kiminori Hosoda

13

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2 August 2017

Tadao Serikawa

14

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2 August 2017

Kazuwa Nakao

15

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2 August 2017

1 May 2015

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2 August 2017

Human Molecular Genetics

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2 August 2017

24

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2 August 2017

15

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2 August 2017

4238-4249

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Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

2 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Human lipodystrophies: genetic and acquired diseases of adipose tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Clinical review#: Lipodystrophies: genetic and acquired body fat disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Caveolin-1: a new locus for human lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Seipin ablation in mice results in severe generalized lipodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Thiazolidinediones partially reverse the metabolic disturbances observed in Bscl2/seipin-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Lack of seipin in neurons results in anxiety- and depression-like behaviors via down regulation of PPARγ.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Lack of testicular seipin causes teratozoospermia syndrome in men.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

An ENU-induced mutant archive for gene targeting in rats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Phenotypic Heterogeneity in Body Fat Distribution in Patients with Congenital Generalized Lipodystrophy Caused by Mutations in the AGPAT2 or Seipin Genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Life without white fat: a transgenic mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Homeostatic regulation of germinal stem cell proliferation by the GDNF/FSH pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Seipin: from human disease to molecular mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Acquired and inherited lipodystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Leptin regulation of neuronal excitability and cognitive function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Leptin signaling in brain: A link between nutrition and cognition?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

The hippocampus as a spatial map. Preliminary evidence from unit activity in the freely-moving rat

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

21 January 2018

Mazes, maps, and memory

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Seipinopathy: a novel endoplasmic reticulum stress-associated disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Rescue of infertile transgenic rat lines by intracytoplasmic injection of cryopreserved round spermatids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Generation of leptin-deficient Lepmkyo/Lepmkyo rats and identification of leptin-responsive genes in the liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Selective white matter abnormalities in a novel rat model of vascular dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Floral development of an asexual and female-like mutant carrying two deletions in gynoecium-suppressing and stamen-promoting functional regions on the Y chromosome of the dioecious plant Silene latifolia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

Functional magnetic resonance imaging analysis of food-related brain activity in patients with lipodystrophy undergoing leptin replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV156

21 January 2018

Identifiers

DOI

10.1093/HMG/DDV156

1 reference

2 August 2017

1 reference