(Q24315121)

GOA release 2020-03-11

1 reference

20

0 references

Gudrun Nürnberg

6

0 references

Bernd Wollnik

18

0 references

Janine Altmüller

13

0 references

Gökhan Yigit

17

0 references

Muhammad Sajid Hussain

Muhammad S Hussain

1

0 references

Peter Frommolt

Peter Frommolt

14

0 references

Shahid M Baig

2

Shahid M Baig

0 references

Holger Thiele

15

Holger Thiele

0 references

Janine Altmüller

1 reference

ORCID Public Data File 2021

author name string

Sascha Neumann

3

0 references

Vivek S Peche

4

0 references

Sandra Szczepanski

5

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Muhammad Tariq

7

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Muhammad Jameel

8

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Tahir N Khan

9

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Ambrin Fatima

10

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Naveed A Malik

11

0 references

Ilyas Ahmad

12

0 references

Wolfgang Höhne

16

0 references

Bernd A Neubauer

19

0 references

Angelika A Noegel

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

21

0 references

language of work or name

English

0 references

publication date

20 December 2013

0 references

published in

Human Molecular Genetics

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volume

22

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issue

25

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page(s)

5199-214

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Identification of microcephalin, a protein implicated in determining the size of the human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

WDR62 is associated with the spindle pole and is mutated in human microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

ASPM is a major determinant of cerebral cortical size

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Primary microcephaly: do all roads lead to Rome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Many roads lead to primary autosomal recessive microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Symmetric versus asymmetric cell division during neurogenesis in the developing vertebrate central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Centrioles, centrosomes, and cilia in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Identification of G1 kinase activity for cdk6, a novel cyclin D partner

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Mammalian cells cycle without the D-type cyclin-dependent kinases Cdk4 and Cdk6

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Active cdk6 complexes are predominantly nuclear and represent only a minority of the cdk6 in T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Distinct subcellular distribution of cyclin dependent kinase 6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

The p16(INK4a) tumour suppressor protein inhibits alphavbeta3 integrin-mediated cell spreading on vitronectin by blocking PKC-dependent localization of alphavbeta3 to focal contacts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Development of the cerebral cortex in rodents and man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Development of the human cerebral cortex: Boulder Committee revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Live imaging at the onset of cortical neurogenesis reveals differential appearance of the neuronal phenotype in apical versus basal progenitor progeny

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Distinct behaviors of neural stem and progenitor cells underlie cortical neurogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

A cell cycle-regulated inhibitor of cyclin-dependent kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

The subcellular locations of p15(Ink4b) and p27(Kip1) coordinate their inhibitory interactions with cdk4 and cdk2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

cdk6 can shorten G(1) phase dependent upon the N-terminal INK4 interaction domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

From cell cycle to differentiation: an expanding role for cdk6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

MCPH1/BRIT1 limits ionizing radiation-induced centrosome amplification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

CDK5RAP2 regulates centriole engagement and cohesion in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Centrosome biogenesis and function: centrosomics brings new understanding

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Centrosomes and cilia in human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

"It takes two to tango": understanding how centrosome duplication is regulated throughout the cell cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Cyclin E-Cdk2 temporally regulates centrosome assembly and establishment of polarity in Caenorhabditis elegans embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Active cyclin B1-Cdk1 first appears on centrosomes in prophase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Mitotic kinases as regulators of cell division and its checkpoints

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Centrosome duplication in mammalian somatic cells requires E2F and Cdk2-cyclin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Selective cortical interneuron and GABA deficits in cyclin D2-null mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

The critical role of cyclin D2 in adult neurogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Cdk6-dependent regulation of G(1) length controls adult neurogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Neuronal apoptosis at the G1/S cell cycle checkpoint

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Short hairpin RNAs (shRNAs) induce sequence-specific silencing in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Nuclear localization of Annexin A7 during murine brain development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Rat monoclonal antitubulin antibodies derived by using a new nonsecreting rat cell line

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

inferred from DOI database lookup

7 January 2021

based on heuristic

A common mechanism for microcephaly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374