PTEN: A master regulator of neuronal structure, function, and plasticity. [PDF]
, 2014 PTEN (phosphatase and tensin homolog on chromosome ten) is a dual protein/lipid phosphatase that dephosphorylates PIP3, thereby inhibiting the AKT/mTOR pathway. This inhibition ultimately decreases protein translation, cell proliferation and cell growth.
Garcia-Junco-Clemente, Pablo +1 more
core +1 more source
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes [PDF]
, 2017 Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to ...
Aral, B +51 more
core +3 more sources
Atualização em etiologia, diagnóstico e manejo da precocidade sexual [PDF]
, 2008 Precocious puberty is defined as the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Gonadotropin-dependent precocious puberty (GDPP) results from the premature activation of the hypothalamic ...
ARNHOLD, Ivo J. P. +3 more
core +2 more sources
Gamma-Knife Radiosurgery for Hypothalamic Hamartoma-Related Epilepsy [PDF]
Annals of Child Neurology, 2021 Purpose Hypothalamic hamartoma (HH), a rare congenital disorder, can cause intractable epilepsy and requires optimal surgical treatment. This study analyzed the clinical characteristics of HH and evaluated seizure outcomes and the safety of gamma-knife ...
Joo Young Song +4 more
doaj +1 more source
The ventrolateral hypothalamic area and the parvafox nucleus: Role in the expression of (positive) emotions? [PDF]
, 2015 The lateral hypothalamus has been long suspected of triggering the expression of positive emotions, because stimulations of its tuberal portion provoke bursts of laughter.
Alvarez-Bolado, Gonzalo, Celio, Marco R.
core +1 more source
Genetics of Growth Disorders-Which Patients Require Genetic Testing? [PDF]
, 2019 The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in
Argente, J +3 more
core +1 more source
Pallister-Hall Syndrome Presenting in Adolescence
Case Reports in Genetics, 2019 Pallister-Hall syndrome (PHS) is an extremely rare syndrome of unknown prevalence with autosomal dominant inheritance due to GLI3 gene mutations classically characterized by the presence of a hypothalamic hamartoma and polydactyly.
Aria Mahtabfar +4 more
doaj +1 more source
Hypothalamic Hamartoma and Generalized Epilepsy
Pediatric Neurology Briefs, 2003 The evolution of symptomatic generalized epilepsy was studied in 12 of 20 children with hypothalamic hamartoma who were treated surgically by transcallosal microsurgical resection at the Royal Children’s Hospital, Parkville, Australia.
J Gordon Millichap
doaj +1 more source
The Most Common Comorbidities in Dandy-Walker Syndrome Patients: A Systematic Review of Case Reports. [PDF]
, 2017 OBJECTIVE: Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities.
Aluclu MU +37 more
core +2 more sources
Hypothalamic Hamartoma–Associated Central Precocious Puberty in a Young Boy: A Case Study
Annals of Internal Medicine: Clinical CasesHypothalamic hamartoma is a congenital malformation diagnosed via magnetic resonance imaging and histology, and it often is linked to central precocious puberty (CPP), gelastic seizures, and intellectual disabilities.
Arooba Idris +7 more
doaj +1 more source