Connecting the PWS Dots | Category

Research Database

The research database is a compilation of research abstracts and articles about Prader-Willi syndrome (PWS) as well as topics related to PWS. Beginning in November 2007, the database is being reorganized to make its entries more accessible by subject and date, but that process is incomplete, so be sure to try a search (using the search box in the upper right corner above) if you don't find much through the links below.

Entries by date

2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000
1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1990
1989 | 1988 | 1987 | 1986 | 1985 | 1984 | 1983 | 1982 | 1981 | 1980
1975 | 1970 | 1967

Entries by subject

PWS-specific articles | PWS-UPD
Acid/base | Acidosis | Lactate | Lactic acidosis | Lactic acidemia
Anesthesia | Surgery | Sudden unexpected death | Intercurrent illness | Sepsis | Cytopathic hypoxia
Behavioral and Psychiatric
- ADHD | Aggression | Anger | Antisocial behavior | Anxiety | Autism | Behavioral problems | Bipolar disorder | Catatonia | Conduct disorder | Depression | Destructiveness | Egotistic | Hoarding | Impulsivity | Irritability | Lethargy | Lying | Manipulative | Mood lability | OCD | Oppositional defiant disorder, Panic disorder | Perseveration | Psychosis | Rage attacks | Self-harming | Stealing | Stereotypic movement disorder | Stubbornness | Temper tantrums | Violence
- Neurobehavioral
- Neurosteroids | Neuroendocrine
  - Stress response
- Neurotransmitters
  - Acetylcholine | Dopamine | Epinephrine | GABA | Norepinephrine | Serotonin
  - Cholinergic | Dopaminergic | Noradrenergic | Serotonergic
- Gamma-hydroxybutyrate
Biochemistry
- Acetyl groups | Acetyl-CoA | Coenzyme A (CoA)
- Enzymes | Choline acetyltransferase | Carnitine acetyltransferase | Creatine kinase
- Organic acids | Methylglutaric acid | Methylglutaconic acid | Hydroxyisovaleric acid | Methylcrotonylglycine acid
- Fumarate
Cardiac | Cardiomyopathy | Cor pulmonale
Central Nervous System (CNS)/Neurological
- Brain | Brain development | Myelination | Plasticity
- Amygdala | Cerebellum | Dentate gyrus | Frontal cortex | Hippocampus | Hypothalamus | Stratum radiatum | Striatum | Thalamus
- Neurological | Neuroendocrine
  - Ataxia | Dexterity, Encephalopathy | Motor skills, Movement disorders | Restless leg syndrome | Seizures | Stroke
- Blood-brain barrier
Cognitive | Academic performance | Alertness | Attentiveness | Cognitive impairment | Memory | Planning
Dermatological
Developmental
- Cognitive development
- Growth | Fetal growth restriction | Failure to thrive
- Neurodevelopmental
- Motor development | Fine motor | Gross motor
- Developmental delays
  - Expressive language | See also Speech
Drug treatments | Drug safety | Drug efficacy | Drug metabolism
- Antidepressants
  - SSRIs | Fluoxetine (Prozac) | Fluvoxamine (Luvox) | Femoxetine
  - Tricyclic antidepressants | Desipramine
  - Other antidepressants | Ritanserin | Viloxazine
- Antipsychotics
- Bisphosphonates
- Neuroprotectants | Deprenyl
- Obesity treatment | Sibutramine
- Statins
- Stimulants | Provigil
Endocrine | Neuroendocrine
- Growth hormone | Growth hormone physiology | Growth hormone treatment | Growth hormone safety | Growth velocity
  - IGF-1 | IGFBP-1 | IGFBP-3
- Follicle-stimulating hormone (FSH) | Luteinizing hormone
- Hormone disruptors
- Human chorionic gonadotropin
- Hypogonadism
- Hypothalamus | HPA axis | Arginine vasopressin | Corticotropin-releasing Hormone | Gonadotropin-releasing Hormone (GNRH, aka luteinising-hormone releasing hormone - LHRH)
- Pancreas | Glucagon | Insulin | Pancreatic polypeptide
- Pituitary | Prolactin | Hyperprolactinemia
- Polycystic ovary syndrome | Amenorrhea | Galactorrhea
- Sexual development | Premature adrenarche | Premature puberty | Testes
- Steroid hormones
  - Adrenal | Androgens | Hyperandrogenism | Hypoadrenalism
    - Medulla: Epinephrine/adrenaline | Norepinephrine/noradrenaline
    - Cortex: Aldosterone | Cortisol | DHEA
  - Androstenedione
  - Corticosterone
  - Estrogen | Phytoestrogens
  - Progesterone
  - Testosterone
- Sex hormone binding globulin
- Sexual development | Premature adrenarche | Premature pubarche, Precocious puberty | Puberty
- Thyroid
  - Hyperthyroidism | Hypothyroidism
- Melatonin
Genetics
- PWS genes
  - Primary
    - Imprinted: SNRPN | SNURF
    - Not imprinted: CYFIP1 | NIPA2 | NRF-1 (binding site)
    - Undetermined imprinting: GOLGA8E | WHDC1L1
  - Secondary: CD36-FAT | FMR1 | MECP2 | PPARalpha | PPARbeta | PEPCK
  - Possibles: AMPK | Fatty acid synthase, Foxa2 | GLUT4 | NR4A | PGC-1alpha | PPARgamma | PXR
- DNA synthesis
- Gene expression | DNA methylation | Imprinting | Epigenetics | RNA processing | snoRNAs
- Post-translational modification
  - Acetylation | Glycosylation | Glycoproteins | CDGs | Phosphorylation
Gastrointestinal
- Carbohydrate intolerance
- Celiac disease
- Digestive malabsorption
- Food sensitivities
Hematology
- Iron | Iron deficiency (w/o anemia) | Iron deficiency anemia | Iron overload | Iron absorption
- Heme | Heme synthesis | Hemoglobin | Porphyrins
- Monocytes | Neutrophils | Platelets
- Mean corpuscular volume (MCV)
- Thrombocytopenia
Immunological
- Allergy
- Autoimmunity | Inflammatory disease | Lupus
- Cancer
- Cytokines | Interleukin-6
- Immune deficiency | Recurrent infections
- Sepsis | Cytopathic hypoxia
- Thymus
- Vaccination | Vaccine response
Kidneys | Albumin | BUN | Creatinine | Nephropathy
Liver | Alanine aminotransferase/ALT | Albumin | Alkaline phosphatase/ALP | Aspartate aminotransferase/AST | Bilirubin | Hepatomegaly | Hyperammonemia | Liver disease
Metabolism | Homeostasis
- Energy metabolism
- Malnutrition and starvation
- Protein metabolism | Amino acid oxidation
  - Alanine | Arginine | Glutamate | Glutamine | Glycine | Leucine
- Inborn errors of metabolism
  - Organic acid metabolism
- Urea cycle | Ornithine
Musculoskeletal
- Activity level | Dexterity | Endurance | Exercise intolerance | Motor skills | Strength
- Hypotonia | Myopathy | Mitochondrial myopathy | Lipid storage myopathy | Muscle biopsy | Muscle morphology
- Bone mineral density | Osteoporosis | Bone age | Bone turnover
Nutrition and diet
- Low-carb diet | Ketogenic diet | High-protein diet
- Gluten-free diet | Grains
- Antinutrients | Lectins | Phytates | Tannins | Trypsin inhibitors
- Carbohydrates | Fructose
- Dairy
- Protein
- Soy
- Vegetarian
- Nutritional supplements
Obesity
- Adiponectin | Ghrelin | Leptin
- Activity level | Exercise | Exercise capacity
- Appetite | Hyperphagia | Satiety
- Body composition
- Eating disorders
- Obesity treatment | Bariatric surgery | Sibutramine
Ocular
- Visual memory
Oral | Gums | Teeth | Tooth enamel | Tooth mineralization
Pathways
- HMG-COA | Cystathionine | Cysteine | Homocysteine | Methionine | Transsulfuration
Respiratory
- Hypercapnia | Hypoxia | Hypoventilation
- Sleep-related breathing disorders | Apnea | Hypopnea | Obstructive sleep apnea
  - Polysomnography
  - Continuous positive airways pressure
Sleep
- Cataplexy | Narcolepsy | Hypocretin
- Excessive daytime sleepiness | Hypersomnolence
- Polysomnography | Multiple sleep latency test
- Sleep architecture | Sleep cycling alternating pattern | Sleep disturbances | Sleep onset rapid eye movement
- Sleep-related breathing disorders (See Respiratory above for complete listing)
Other PWS-related topics
- Dysmorphias
- Hydration
- Speech | Expressive language | Hearing
- Thermoregulation | Cold intolerance | Heat intolerance
- Music therapy
- Drug metabolism
Other syndromes
- Inborn errors of metabolism
- Ethylmalonic-adipic aciduria
- Fragile X PWS phenotype
- Glycogen storage disorders
- HMG-COA lyase deficiency
- Lysosomal storage disorders | Alpha-mannosidosis | Mucopolysaccharidosis | Mucopolysaccharidosis Type VII | Beta-glucuronidase
- Medium-chain acyl-CoA dehydrogenase deficiency
- Multiple acyl-CoA dehydrogenase deficiency | Glutaric acidemia
- Organic acidemias
- Organic acidurias
- Short-chain acyl-CoA dehydrogenase deficiency,
- Succinic semialdehyde dehydrogenase deficiency (GABA-related)
- Coffin-Lowry syndrome
- Creatine synthesis and transport disorders
- Leigh syndrome
- MELAS
- Rett syndrome
Miscellaneous issues
- Environmental health | Mercury | Premature puberty