MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia. - Wikidata - awgldk - TriplyDB

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

http://www.wikidata.org/entity/Q34277139

about

Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population Protein phospholipase C Zeta1 expression in patients with failed ICSI but with normal sperm parameters Genetic aspects of monomorphic teratozoospermia: a review Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation.Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development.Comparative testicular transcriptome of wild type and globozoospermic Dpy19l2 knock out mice Dynamics of Sun5 localization during spermatogenesis in wild type and Dpy19l2 knock-out mice indicates that Sun5 is not involved in acrosome attachment to the nuclear envelope Biogenesis of sperm acrosome is regulated by pre-mRNA alternative splicing of Acrbp in the mouse.Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping.Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017.Sun proteins and Dpy19l2 forming LINC-like links are critical for spermiogenesis Ultrastructural Morphology of Sperm from Human Globozoospermia.Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models.Correlation between sperm DNA fragmentation index and CMA3 positive spermatozoa in globozoospermic patients.Nuclear envelope remodelling during human spermiogenesis involves somatic B-type lamins and a spermatid-specific B3 lamin isoform.The involvement of the nuclear lamina in human and rodent spermiogenesis: a systematic review.AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice.

P2860

Q21144892-47B8FBF1-3BE3-4E06-B8BD-2323A849FD6E Q33722012-7BFD669E-D915-4F95-B1D0-7D36E62ADD62 Q34464318-1D1F488B-09E9-4C2F-8772-5C0ABBE809AC Q34927993-C6B70F7D-7EC4-4AE6-8C3D-E3CCFFF6F292 Q35029221-D1D9E991-95D2-4360-8281-F511158E70A3 Q35029225-FB1AD0EA-016D-460D-AD7C-C5CA7D9A0C46 Q35136898-1E84A205-8111-42CD-AE40-F17DD439EDE7 Q35182594-3A98F007-F2E3-409C-A913-B0E75621EB13 Q37065087-4C5CFA29-9E29-4634-A270-71199486E2E7 Q37101666-7EF4052C-93D6-49EC-BBDE-3D01FCCA5BBE Q39022740-9C5C9C78-C3B9-4FBB-AFB5-B7D69AC7C7F2 Q39425829-DA7DDBB6-8F7B-4AFE-AC60-B106726CDAB4 Q42773799-B1A094B8-8C68-49FE-A49F-D4B1C662F753 Q43243536-B4B22BD6-67C3-4DFA-BE9E-AF06078E38B7 Q45053888-09688E81-2125-492F-9AD4-BD01D673D343 Q50568136-B965A672-659A-40C1-98B8-A02B07FD1179 Q53675969-33DBADB3-1F42-4D63-BDC1-FAB357CBCD3C Q55318255-EAF566D3-5AC8-4322-A137-F62B34A2488C Q55610289-40D70308-2889-415F-B27B-3B58C97223FA

P2860

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

http://www.wikidata.org/entity/Q34277139

description

2012 nî lūn-bûn

@nan

2012 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի մայիսին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

name

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

@ast

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

@en

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

@nl

type

label

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

@ast

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

@en

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

@nl

prefLabel

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

@ast

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

@en

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.

@nl

P1433

Q34277139-4B77EF89-C280-4D14-BA9C-77F2EC07C2D7

P1476

Q34277139-CF89A492-E121-4AB2-BF15-488CC8D22E36

P2093

Q34277139-03B95514-F0F8-4331-8BE9-55F85399E56A

Q34277139-0BD0E788-9D50-4F50-A06D-653D35771B2E

Q34277139-149FD184-F5B3-450A-AF66-BBE2492FDCB8

Q34277139-2B5CB2C4-6995-4343-A887-7E92218ED235

Q34277139-4CF8AA60-D77B-4396-B0F5-AAE3D6839826

Q34277139-4E47DBCC-35F7-433B-84C6-5313667B4757

Q34277139-5DBDFB66-99AA-4A5C-9940-85524FC4CA4B

Q34277139-6C069A03-FEE7-4027-8385-89EC36CE67A0

Q34277139-9262B59A-8710-453F-96FD-2A1E80D24552

Q34277139-AF604CE9-8062-474D-B67B-2D005ECA077B

P304

Q34277139-7D879F26-5D21-42A8-9BBF-4C9A7AE377B8

P31

Q34277139-94B89421-2100-4BA2-A8AB-B7E277D1933A

P356

Q34277139-2F602877-8855-44A3-BDE8-1668EA866143

P407

Q34277139-D8CCD114-D9BE-4C6A-8D43-0D00B0891AA5

P433

Q34277139-C2851B8F-F77D-46EC-8777-E8392ED8233E

P478

Q34277139-EA442191-1B2B-49A2-B430-D026287014DC

P50

Q34277139-20987E5E-46A3-4BD2-8B23-5E11AFEF2534

Q34277139-AB8B2898-094B-4A62-B35C-48C69427A8CA

Q34277139-B76856D6-4A5D-4886-96F7-C3781FE3E817

Q34277139-D154E1D6-82D4-4DEE-9158-048FB8A250ED

Q34277139-E00FB570-C404-4FAA-B03D-793E36EF0F77

Q34277139-EB537BE4-B724-40E4-BF48-F8AFAEAAB5EF

P577

Q34277139-1BEF84E0-E00F-40D9-8B82-4F63EAB6C556

P5875

Q34277139-9D1EA186-D13C-48BF-BD2C-85B3843D5DBB

P698

Q34277139-6A8C9840-0963-46D0-9CF5-E89161A2F5D8

P356

P1433

Human Reproduction

P1476

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia

@en

P2093

Chema Triki

http://www.w3.org/2001/XMLSchema#string

Denise Escalier

http://www.w3.org/2001/XMLSchema#string

Farid Abada

http://www.w3.org/2001/XMLSchema#string

Florence Boitrelle

http://www.w3.org/2001/XMLSchema#string

Ghaya Merdassi

http://www.w3.org/2001/XMLSchema#string

Joël Lunardi

http://www.w3.org/2001/XMLSchema#string

Laetitia Hesters

http://www.w3.org/2001/XMLSchema#string

Mariem Ben Khelifa

http://www.w3.org/2001/XMLSchema#string

Nathalie Sermondade

http://www.w3.org/2001/XMLSchema#string

Pierre-Simon Jouk

http://www.w3.org/2001/XMLSchema#string

P304

2549-2558

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1093/HUMREP/DES160

http://www.w3.org/2001/XMLSchema#string

P407

P433

8

http://www.w3.org/2001/XMLSchema#string

P478

27

http://www.w3.org/2001/XMLSchema#string

P50

Christophe Arnoult

Charles Coutton

Véronique Satre

P577

2012-05-24T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

225043635

http://www.w3.org/2001/XMLSchema#string

P698

22627659

http://www.w3.org/2001/XMLSchema#string