Results 41 to 50 of about 66,364 (302)

Pituitary-adrenal axis in Prader Willi syndrome [PDF]

, 2016
Purpose: Prader Willi syndrome (PWS) is a rare genetic condition that has concurrent endocrinological insufficiencies. The presence of growth hormone deficiency has been well documented, but adrenal insufficiency (AI) is not widely reported. A review was
Edgar, Olivia S., Lucas-Herald, Angela K., Shaikh, Mohamad Guftar   +2 more
core   +2 more sources

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

A couple of the first cousins born with hypotonia and maternal polyhydramnios

Clinical Case Reports
Key Clinical Message Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia.
Mousa Ahmadpour‐kacho, Yadollah Zahed Pasha, Samira Pournajaf   +2 more
doaj   +1 more source

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia

Frontiers in Pediatrics, 2020
UDP-glucose dehydrogenase (UGDH) encodes an oxidoreductase that converts two successive oxidations of UDP-glucose to produce UDP-glucuronic acid, a key component in the synthesis of several polysaccharides such as glycosaminoglycan and the disaccharide ...
Kheloud M. Alhamoudi, Javaid Bhat, Marwan Nashabat, Masheal Alharbi, Yusra Alyafee, Abdulaziz Asiri, Muhammad Umair, Majid Alfadhel, Majid Alfadhel   +8 more
doaj   +1 more source

Üner Tan Syndrome: Review and Emergence of Human Quadrupedalism in Self-Organization,\ud Attractors and Evolutionary Perspectives\ud [PDF]

, 2012
The first man reported in the world literature exhibiting habitual quadrupedal locomotion was discovered by a British traveler and writer on the famous Baghdat road near Havsa/Samsun on the middle Black-Sea coast of Turkey (Childs, 1917).
Karaca, Dr. Sibel, Tamam, Prof. Dr. Yusuf, Tan, Prof. Dr. Meliha, Tan, Prof. Dr. Uner   +3 more
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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency [PDF]

, 2015
Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to ...
Angela eHagendorff, Arnaud V Vanlander, Barbara ePlecko, Boris eRolinski, Charlotte L Alston, Christine eMakowski, Franz A Zimmermann, Holger eProkisch, Holger eProkisch, Johannes A Mayr, Joél eSmet, Lucia eAbela, Maja eHempel, Marianne eRohrbach, Peter eFreisinger, Robert W Taylor, Rudy eVan Coster, Saikat eSantra, Sara eSeneka, Stephanie eSpranger, Steven A Hardy, Thomas eMeitinger, Thomas eMeitinger, Tobias Bernd Haack, Tobias Bernd Haack, Uwe eAhting, Wolfgang eSperl   +26 more
core   +3 more sources

Dimethyl fumarate combined with cisplatin at subcytotoxic doses sensitizes cervical cancer toward ferroptosis and apoptosis through GSH restriction and p53 (re)activation

Molecular Oncology, EarlyView.
Dimethyl fumarate (DMF) reduces growth of HPV‐positive cervical cancer spheroids and induces ferroptosis in cervical cancer cells via blocking SLC7A11/Glutathione (GSH) axis. Combination of subcytotoxic doses of DMF and cisplatin (CDDP) further suppresses spheroid growth and drives cell death in 2D culture models.
Carolina Punziano, Giuseppina Minopoli, Simona Romano, Laura Marrone, Katia Aquilano, Maria Lina Tornesello, Raffaella Faraonio   +6 more
wiley   +1 more source

Ataxia, intentional tremor and hypotonia syndrome caused by a novel POU4F1 gene mutation: a case report

Frontiers in Genetics
Childhood-onset ataxia, intention tremor and hypotonia syndrome (ATITHS) is a rare neurological disorder that encompasses features of hereditary ataxia, hypotonia.
Qisheng Hu, Feng Zhu, Wanfen Wang, Yihang Xu, Haiyan Ren, Yanni Zheng, Yiqing Jiang, Shaofa Ke   +7 more
doaj   +1 more source

Two New Cases of Uner Tan Syndrome: One Man\ud with Transition from Quadrupedalism to Bipedalism;\ud One Man with Consistent Quadrupedalism [PDF]

, 2010
Background: Uner Tan syndrome, first described in\ud 2005, consists of three main symptoms: habitual\ud locomotion on all four extremities, impaired\ud intelligence, and dysarthric or no speech.
Tan, Prof. Dr. Uner
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