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Search 3,717 documents across 34 fields — every claim tier-rated by evidence
50 results for "Angelman syndrome" — page 1 of 3
Z_1_05 — Genomic Imprinting and Parent-of-Origin Effects
Genomic imprinting is an epigenetic phenomenon in which a gene's expression depends on whether it was inherited from the mother or the father — violating the standard Mendelian assumption that both parental copies functi
K_2_20 — Savant Syndrome — Neuroscience of Extraordinary Ability
Savant syndrome — the coexistence of extraordinary ability in a specific domain with significant cognitive disability or neurodevelopmental condition — was first described medically by J. Langdon Down (the physician who
L_3_16 — Genomic Imprinting & Evolutionary Conflict
Genomic imprinting — the epigenetic phenomenon in which a subset of genes (~100–200 in mammals) are expressed from only one parental allele, with the other allele silenced by DNA methylation and histone modification esta
S_4_12 — Space Debris: Kessler Syndrome, Orbital Pollution, and Cleanup Tech
Space debris — defunct satellites, spent rocket stages, fragmentation debris, paint flakes, and other artificial objects orbiting Earth — poses a growing threat to space operations, astronaut safety, and the long-term su
Y_4_02 — Savant Syndrome and Acquired Genius
Savant syndrome — extraordinary ability coexisting with significant cognitive disability — affects roughly 1 in 10 people with autism and ~1 in 2,000 people with other developmental disabilities or brain injuries. What m
M_4_10 — Giants in the Archaeological Record: Separating Fact from Fiction
Claims of giant human skeletons — remains of individuals standing 7, 8, 10, or even 30+ feet tall — are among the most persistent themes in alternative archaeology, appearing in 19th-century newspaper accounts, religious
X_5_28 — Circadian Rhythm Disruption: Health Consequences of Modern Light Exposure
Circadian rhythms — endogenous ~24-hour oscillations in physiology and behavior — are generated by molecular clock genes (CLOCK, BMAL1, PER, CRY) operating in virtually every cell, coordinated by the master pacemaker in
X_3_26 — Chronobiology & Circadian Medicine
Chronobiology — the study of biological rhythms — has emerged from a niche curiosity to a Nobel Prize–winning discipline with profound implications for medicine, metabolism, and mental health. [KEY FINDING] The 2017 Nobe
X_3_24 — Gastroenterology: Microbiome Therapeutics, IBD & Gut-Brain Axis
Gastroenterology — the study and treatment of the digestive system — has undergone a revolution driven by three transformative discoveries: the bacterial etiology of peptic ulcers, the gut microbiome's role in systemic h
X_3_15 — Endocrinology & Hormones
Endocrinology is the branch of medicine dealing with the endocrine system—a network of ductless glands that secrete hormones directly into the bloodstream to regulate metabolism, growth, reproduction, and homeostasis. Th
Z_3_14 — Behavioral Genetics and the Genetics of Aggression
Behavioral genetics investigates the relative contributions of genetic and environmental factors to variation in behavior — including aggression, impulsivity, risk-taking, anxiety, sociability, and cognitive traits. Twin
Z_2_10 — Genetics of Aging and Progeria
Aging — the progressive decline in physiological function leading to increased vulnerability to disease and death — has a substantial genetic component: twin studies estimate heritability of human lifespan at ~25–30% (He
Z_2_09 — Mitochondrial Genetics and Diseases
Human mitochondrial DNA (mtDNA) is a 16,569-bp circular genome encoding 37 genes: 13 proteins (all subunits of the oxidative phosphorylation/OXPHOS complexes I, III, IV, and V), 22 transfer RNAs, and 2 ribosomal RNAs. Un
Z_2_02 — Telomere Biology & Genetics of Aging
Telomeres — repetitive DNA sequences (TTAGGG)ₙ capping the ends of linear chromosomes — serve as protective buffers against chromosome degradation, end-to-end fusion, and the progressive DNA loss inherent in the end-repl
Z_1_06 — Sex Determination Genetics
Sex determination — the biological process that establishes whether an organism develops as male, female, or an alternative reproductive type — employs remarkably diverse mechanisms across the tree of life. In placental
Z_1_13 — DNA Repair Mechanisms and Genome Stability
Every human cell sustains an estimated 10,000–100,000 DNA lesions per day from endogenous sources alone — oxidative metabolism, spontaneous hydrolysis, replication errors, and reactive metabolites — while environmental m
Z_1_10 — Chromosome Evolution and Karyotype
Karyotype — the number, size, and morphology of chromosomes in a cell — varies enormously across species, from n=1 in the ant Myrmecia pilosula to n=630 in the fern Ophioglossum reticulatum. Humans have 2n=46 (23 pairs),
Z_1_09 — Copy Number Variation and Structural Genomics
Copy number variations (CNVs) — segments of DNA ranging from ~1 kilobase to several megabases that are present in variable numbers across individuals — represent the most impactful form of genetic variation in the human
K_3_06 — Disorders of Consciousness: Coma, Vegetative State, and Minimal Consciousness
Disorders of consciousness (DoC) — coma, vegetative state (now termed unresponsive wakefulness syndrome/UWS), and minimally conscious state (MCS) — represent some of the most challenging clinical and philosophical proble
K_3_08 — Intention, Volition, and Motor Consciousness
The neural basis of voluntary action and the timing of conscious intention relative to brain activity has become one of the most productive — and philosophically consequential — research programs in consciousness studies
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