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 16

System / cell line: hormone ✕ Assay: sequence ✕ Clear

A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.

PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups

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A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred

genomic tsa201 unspecified proband sequence modified full-length
Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.

PMID 18363280 · PMC2686955 · The Korean journal of internal medicine · 2008 · 8 claims · 7 setups

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The patient's resistance to thyroid hormone (RTH) was caused by a novel missense mutation (V349M, c.1045G>A) in exon 11 of the TRβ gene, the first such case reported in Korea.

serum pituitary-thyroid thyroid sellar thyroid trh magnetic
Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.

PMID 19795005 · PMC2752790 · Journal of Korean medical science · 2009 · 7 claims · 6 setups

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The patient has a homozygous D103N point mutation in the MC2R gene, with both parents heterozygous carriers

peripheral infant genomic serum rapid pcr
X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

PMID 19654509 · PMC2763399 · Clinical dysmorphology · 2009 · 7 claims · 5 setups

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A 21bp in-frame insertion causing a 7-alanine expansion in the SOX3 polyalanine tract causes X-linked isolated growth hormone deficiency (IGHD) without learning disability.

affected family patients pedigree sanger pcr-based endocrine
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.

PMID 16968799 · PMC1865483 · The Journal of clinical endocrinology and metabolism · 2006 · 7 claims · 8 setups

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A homozygous R262Q GNRHR mutation was identified in two brothers from an Asian Indian family, one of 11 families studied with delayed puberty or discordant IHH/delayed puberty siblings.

blood serum younger brothers mutational hormone 24-hour
An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer.

PMID 18676830 · PMC2680495 · Cancer research · 2008 · 8 claims · 5 setups

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PIK3CA mutations are more common in hormone receptor-positive and HER2-positive tumors than in basal-like breast cancers

breast hormone early-stage mass sanger reverse-phase
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

PMID 17223989 · PMC1859977 · Clinical endocrinology · 2007 · 7 claims · 5 setups

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MC2R mutations can be found in children diagnosed with salt-losing forms of adrenal hypoplasia

genomic plasma children direct plasma standard
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

PMID 19956411 · PMC2786888 · Molecular vision · 2009 · 6 claims · 7 setups

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A novel de novo heterozygous nonsense mutation (c.413C>G, p.S138X) in OTX2 causes an early onset retinal dystrophy accompanied by pituitary dysfunction (growth hormone deficiency)

genomic anonymous single direct lca mismatch
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups

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Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings

blood hek293a bosc serum sanger calcium confocal
Advances in the study of SR protein family.

PMID 15626328 · PMC5172405 · Genomics, proteomics & bioinformatics · 2003 · 8 claims · 8 setups

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SR proteins promote assembly of the early splicesome via protein-protein interactions in their RS-domain that recruit components of the splicing machinery.

nuclear bovine drosophila caenorhabditis selex rna-binding splicing
Identification of the Wheat (Triticum aestivum) IQD Gene Family and an Expression Analysis of Candidate Genes Associated with Seed Dormancy and Germination.

PMID 35456910 · PMC9025732 · International journal of molecular sciences · 2022 · 8 claims · 8 setups

Has reproduction · 78

73 IQD gene family members (TaIQD1-73) were identified in the wheat genome and phylogenetically divided into six major groups.

triticum taiqd wheat promoter genome-wide phylogenetic synteny
Proteomics in alcohol research.

PMID 12875051 · PMC6683837 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2002 · 7 claims · 8 setups

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The proteome is larger and more complex than the genome due to differential splicing, post-translational modifications (PTMs), and protein-protein interactions.

mixtures tryptic liver plasma two-dimensional liquid maldi-tof
Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.

PMID 16361827 · PMC2779314 · Journal of Korean medical science · 2005 · 8 claims · 5 setups

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The patient carries a compound heterozygous missense mutation in AQP2: A70D (exon 1, paternal) and R187H (exon 3, maternal)

3-year-old serum genomic clinical hormone water
A Chronic Fatigue Syndrome - related proteome in human cerebrospinal fluid.

PMID 16321154 · PMC1326206 · BMC neurology · 2005 · 7 claims · 6 setups

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CFS, PGI and fibromyalgia are highly overlapping symptom complexes likely reflecting a shared underlying pathophysiological mechanism rather than distinct diseases

pooled individual cerebrospinal subjects capillary trypsin elisa
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
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups

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INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype

metaphase genomic ebv-transformed serum fluorescence multiplex sanger

Experiments

A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.

Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.

Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.

An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer.

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

Advances in the study of SR protein family.

Identification of the Wheat (Triticum aestivum) IQD Gene Family and an Expression Analysis of Candidate Genes Associated with Seed Dormancy and Germination.

Proteomics in alcohol research.

Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.

A Chronic Fatigue Syndrome - related proteome in human cerebrospinal fluid.

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

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.