Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

Publications 1.3k Datasets 392.5k Experiments 18

System / cell line: consanguineous ✕ Clear

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.

PMID 19079066 · PMC4312696 · Nature genetics · 2009 · 8 claims · 5 setups

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Homozygous loss-of-function mutations in TAC3 or TACR3 cause congenital hypogonadotropic hypogonadism in four consanguineous families

consanguineous genomic hek293a hek293 genome sanger calcium
The molecular landscape of ASPM mutations in primary microcephaly.

PMID 19028728 · PMC2658750 · Journal of medical genetics · 2009 · 8 claims · 7 setups

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ASPM mutations are the most common cause of MCPH

consanguineous genomic parents one polymorphic sanger family
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

PMID 19890111 · PMC2787406 · The New England journal of medicine · 2009 · 8 claims · 8 setups

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Homozygous loss-of-function mutations in IL10RA or IL10RB cause severe early-onset enterocolitis

consanguineous patients ebv-transformed pbmcs genetic-linkage single-nucleotide-polymorphism candidate-gene
Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.

PMID 16440057 · PMC1331980 · PLoS genetics · 2006 · 7 claims · 6 setups

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Complete 4.25-Mb sequence of the QBL haplotype was determined by BAC shotgun sequencing and compared with PGF (reference) and COX haplotypes

qbl pgf classical ceph bac comparative gene
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.

PMID 18157127 · PMC2397541 · Nature genetics · 2008 · 8 claims · 8 setups

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Homozygous truncating mutations in PCNT cause Seckel syndrome

consanguineous genomic lymphoblastoid lcls snp-microarray sanger immunofluorescence
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

PMID 17764569 · PMC2072945 · BMC medical genetics · 2007 · 7 claims · 4 setups

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A nonsense mutation in CDK5RAP2 exon 4, correctly designated 246T>A (Y82X), was identified in all four affected individuals of a Pakistani family linked to MCPH3

pakistani affected unrelated one microsatellite sanger mutation
Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups

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A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals

consanguineous same affected family sanger multiplex microsatellite
A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

PMID 19674475 · PMC2736932 · BMC medical genetics · 2009 · 7 claims · 3 setups

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A Pakistani consanguineous family with three pycnodysostosis-affected individuals shows genetic linkage to the CTSK locus on chromosome 1q21

pakistani genomic microsatellite pcr acii
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups

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GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.

palestinian genomic probands lymphoblasts targeted sanger pcr
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

PMID 18813951 · PMC4428656 · European journal of pediatrics · 2009 · 7 claims · 6 setups

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SLC26A4 mutations are the most prevalent cause of syndromic hereditary hearing loss (Pendred syndrome) in Iran

affected short pcr perchlorate
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

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A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

at-risk eyes blood bbs7 clinical ophthalmologic genetic
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups

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Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.

spanish rp5 population candidate direct comparative pcr
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

PMID 19718270 · PMC2732717 · Molecular vision · 2009 · 7 claims · 6 setups

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A novel homozygous frameshift insertion in PROM1 (c.1349insT) causes cone-rod dystrophy with high myopia in this consanguineous family

patients genomic chromosomes clinical fluorescein full-field
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

PMID 24781758 · PMC4297901 · European journal of human genetics : EJHG · 2015 · 5 claims · 2 setups

Has reproduction · 83

A novel homozygous 2-bp deletion c.1160_1161delCA (p.(Thr387Argfs*30)) in AP4B1 was identified in two siblings with severe ID, absent speech, microcephaly, growth retardation, and progressive spastic tetraplegia

affected family whole-exome sanger
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups

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Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)

family p2ry5 affected snp microsatellite sanger
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups

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A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family

genomic family skeletal blood microsatellite direct multiplex
Mutation survey of known LCA genes and loci in the Saudi Arabian population.

PMID 18936139 · PMC2695987 · Investigative ophthalmology & visual science · 2009 · 7 claims · 4 setups

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Mutations in the 13 known LCA genes were identified in only 24% (9/37) of Saudi Arabian LCA families, far lower than the ~65% mutation detection rate reported in European populations

leukocyte affected kkesh-060 direct str homozygosity
Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline.

PMID 12546714 · PMC149328 · BMC genetics · 2003 · 8 claims · 5 setups

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A human oocyte-specific DNMT1 isoform (DNMT1o), driven by a novel upstream exon 1o, is expressed in mature oocytes and early embryos but not in somatic tissues

oocytes genomic fbhm population rt-pcr est direct

Experiments

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.

The molecular landscape of ASPM mutations in primary microcephaly.

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history.

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

Mutation survey of known LCA genes and loci in the Saudi Arabian population.

Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline.