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TranscriptomicsZNF750 in late keratinocyte differentiation
Disrupted skin barrier due to altered keratinocyte differentiation is common in pathologic conditions such as atopic dermatitis, ichthyosis and psoriasis. However, the molecular cascades governing keratinocyte terminal differentiation are still poorly understood. We have previously demostrated that ...
ORGANISM(S): Homo sapiens 
2012-09-24 | E-GEOD-38039 | biostudies-arrayexpress
UnknownMaternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.
Not available
S-EPMC2495061 | biostudies-literature
UnknownAutosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
Not available
S-EPMC3925282 | biostudies-literature
TranscriptomicsTranscription profiling of human cumulus cells in vitro isolated from polycystic ovary syndrome lean and obese individuals reveals PCOS in lean and obese individuals is associated with different molecular pathways
Objective: The etiology of PCOS is mostly unknown. Existing data support both genetic and environmental factors in its pathogenesis. Design: Prospective case - control study. Setting: University Hospital. Patients: 25 patients undergoing IVF-ICSI treatment. Intervention: Genome-wide oligonucleoti...
ORGANISM(S): Homo sapiens 
2008-06-11 | E-GEOD-10946 | biostudies-arrayexpress
UnknownSCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
Not available
S-EPMC6777442 | biostudies-literature
UnknownAbsence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis.
Not available
S-EPMC10405349 | biostudies-literature
UnknownHeterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.
Not available
S-EPMC11061164 | biostudies-literature
UnknownEarly-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.
Not available
S-EPMC12485581 | biostudies-literature
UnknownMutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy.
Not available
S-EPMC2948803 | biostudies-literature
UnknownSMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
Not available
S-EPMC10756932 | biostudies-literature
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