Polyglutamine tract-binding protein 1 (PQBP1) is a protein that plays ... in the PQBP1 gene can lead to conditions such as Renpenning syndrome, characterized by intellectual disability ...

The p.Y65C mutation may affect the proper functioning of the PQBP1 protein as a transcriptional co-activator. Patients 1–3 and their pedigree numbers are the same in the present paper and in the ...

What is Cushing's syndrome? Cushing's syndrome is a hormonal disorder. It’s caused when you have high levels of the hormone cortisol over a long time. Cushing's syndrome is fairly rare. It most often ...

Pete is joined by his final choice as part of Radio 1 Dance's Future Stars, Deer Jade. FKA Twigs enters Album Mode, and Richard Russell picks his 3.

MUMBAI (Reuters) -- One person is believed to have died in India's Maharashtra state in an outbreak of Guillain-Barre syndrome (GBS) -- a neurological disease that causes numbness, weakness and ...

A good example of a syndrome is Down syndrome, which features a specific set of physical features and developmental difficulties but doesn't imply a single disease process. Diseases have well ...

Many Black patients may also lack adequate healthcare access, so when they do visit a doctor, it’s not the experience that others have. White Coat Syndrome refers to increased anxiety when seeing the ...

OBJECTIVES To clarify the nosological relation among Miller Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) with ophthalmoplegia, Bickerstaff's brain stem encephalitis (BBE), and acute ...

Menkes 综合症是一种罕见的遗传性疾病，其症状表现多样，包括生长发育迟缓、神经系统异常、头发和皮肤改变、心血管问题、骨骼异常等。 1. 生长发育迟缓：患儿通常体重增长缓慢，身高低于同龄人，智力发育也会受到影响，表现为学习能力差、认知障碍等。 2. 神经系统异常：常见的有癫痫发作、肌肉张力低下、运动功能障碍，还可能出现震颤、共济失调等症状。 3.