Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome (Q34657511)

3 August 2017

title

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome (English)

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3 August 2017

main subject

Lenz–Majewski syndrome

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17

Lionel Van Maldergem

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Philip Stanier

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Philip Stanier

18

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Krystyna Chrzanowska

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Krystyna Chrzanowska

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Mina Ryten

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object named as

Mina Ryten

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3 August 2017

Sérgio B Sousa

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Dagan Jenkins

2

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Estelle Chanudet

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Guergana Tasseva

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Miho Ishida

5

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Glenn Anderson

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James Docker

7

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Joaquim Sa

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Jorge M Saraiva

10

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Angela Barnicoat

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Richard Scott

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Alistair Calder

13

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Duangrurdee Wattanasirichaigoon

14

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Martina Simandlová

16

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Philip L Beales

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Jean E Vance

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Gudrun E Moore

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3 August 2017

language of work or name

English

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publication date

17 November 2013

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3 August 2017

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3 August 2017

volume

46

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3 August 2017

issue

1

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3 August 2017

page(s)

70-76

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Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient.

3 August 2017

cites work

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The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis.

21 January 2018

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21 January 2018

Lenz-Majewski syndrome.

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Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome.

21 January 2018

1 reference

dbSNP: the NCBI database of genetic variation

21 January 2018

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A map of human genome variation from population-scale sequencing

21 January 2018

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Formation and function of phosphatidylserine and phosphatidylethanolamine in mammalian cells

21 January 2018

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Purification and characterization of human phosphatidylserine synthases 1 and 2.

21 January 2018

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The distribution and function of phosphatidylserine in cellular membranes

21 January 2018

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Metabolism and functions of phosphatidylserine in mammalian brain

21 January 2018

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Location of phosphatidylethanolamine and phosphatidylserine in the human platelet plasma membrane

21 January 2018

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Cloning and expression of murine liver phosphatidylserine synthase (PSS)-2: differential regulation of phospholipid metabolism by PSS1 and PSS2.

21 January 2018

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Functional analysis of Chinese hamster phosphatidylserine synthase 1 through systematic alanine mutagenesis

21 January 2018

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Defining the importance of phosphatidylserine synthase-1 (PSS1): unexpected viability of PSS1-deficient mice

21 January 2018

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Defining the importance of phosphatidylserine synthase 2 in mice

21 January 2018

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Control of phosphatidylserine biosynthesis through phosphatidylserine-mediated inhibition of phosphatidylserine synthase I in Chinese hamster ovary cells

21 January 2018

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Enzymatic measurement of phosphatidylserine in cultured cells

21 January 2018

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Cloning and expression of mouse liver phosphatidylserine synthase-1 cDNA. Overexpression in rat hepatoma cells inhibits the CDP-ethanolamine pathway for phosphatidylethanolamine biosynthesis

21 January 2018

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Morpholino artifacts provide pitfalls and reveal a novel role for pro-apoptotic genes in hindbrain boundary development

21 January 2018

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Structure and expression of the murine phosphatidylserine synthase-1 gene

21 January 2018

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N-Myc and SP regulate phosphatidylserine synthase-1 expression in brain and glial cells

21 January 2018

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Effects of phosphatidylserine supplementation on exercising humans.

21 January 2018

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Treatment of memory loss with herbal remedies.

21 January 2018

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Metabolic cutis laxa syndromes

21 January 2018

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Mutations in PYCR1 cause cutis laxa with progeroid features

21 January 2018

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

21 January 2018

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Nosology and classification of genetic skeletal disorders: 2010 revision.

21 January 2018

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Analysis and molecular modeling of the formation, structure, and activity of the phosphatidylserine-calcium-phosphate complex associated with biomineralization

21 January 2018

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Role of phosphatidyl-serine in bone repair and its technological exploitation.

21 January 2018

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Matrix vesicles originate from apical membrane microvilli of mineralizing osteoblast-like Saos-2 cells.

21 January 2018

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Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

21 January 2018

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A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD)

21 January 2018

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Phosphatidylserine-containing liposomes inhibit the differentiation of osteoclasts and trabecular bone loss

21 January 2018

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Phosphatidylserine synthase-1 and -2 are localized to mitochondria-associated membranes

21 January 2018

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A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATION

21 January 2018

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Quantitative analysis of phospholipids by thin-layer chromatography and phosphorus analysis of spots

21 January 2018

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MRC-Wellcome Trust Human Developmental Biology Resource: enabling studies of human developmental gene expression.

21 January 2018

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A direct role for Sox10 in specification of neural crest-derived sensory neurons

21 January 2018

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Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

21 January 2018

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Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus

21 January 2018

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12 December 2020

Phosphatidylserine biosynthesis in cultured Chinese hamster ovary cells. I. Inhibition of de novo phosphatidylserine biosynthesis by exogenous phosphatidylserine and its efficient incorporation

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12 December 2020

Genetic evidence that phosphatidylserine synthase II catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine in Chinese hamster ovary cells

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12 December 2020

Control of phosphatidylserine synthase II activity in Chinese hamster ovary cells

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12 December 2020

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

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12 December 2020

Craniodiaphyseal dysplasia, a disease or group of diseases?

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12 December 2020

Multiple congenital abnormalities with diaphyseal dysplasia (Camurati—Engelmann's syndrome)

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12 December 2020

Dysgenesis of corpus callosum in Lenz-Majewski hyperostotic dwarfism

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12 December 2020

A generalized disorders of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hypostosis.

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12 December 2020

Cutis laxa, skeletal anomalies, and ambiguous genitalia

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12 December 2020

Identifiers

DOI

10.1038/NG.2829

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3 August 2017

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