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526101 to 526200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.
The survival motor neuron protein in spinal muscular atrophy.
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing.
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis.
Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes.
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.
Correlation between severity and SMN protein level in spinal muscular atrophy.
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
Induced pluripotent stem cells from a spinal muscular atrophy patient.
Frailty, hospitalization, and progression of disability in a cohort of disabled older women.
Raised CRP levels mark metabolic and functional impairment in advanced COPD.
Physical frailty and body composition in obese elderly men and women.
Prelamin A and lamin A appear to be dispensable in the nuclear lamina.
Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy.
Hip strength in females with and without patellofemoral pain.
Quadriceps strength and volitional activation before and after total knee arthroplasty for osteoarthritis.
Axonopathy and amyotrophy in mice transgenic for human four-repeat tau protein.
Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients.
Deaths of children during an outbreak of hand, foot, and mouth disease in sarawak, malaysia: clinical and pathological characteristics of the disease. For the Outbreak Study Group.
Inflammatory markers and loss of muscle mass (sarcopenia) and strength.
Peripheral muscle weakness contributes to exercise limitation in COPD.
Quadriceps weakness and osteoarthritis of the knee.
Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.
Efficacy and safety of corticosteroids for persistent acute respiratory distress syndrome.
Age-dependent emergence and progression of a tauopathy in transgenic mice overexpressing the shortest human tau isoform.
Invited review: Aging and sarcopenia.
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.
Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).
Masculinized finger length patterns in human males and females with congenital adrenal hyperplasia.
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
Congenital adrenal hyperplasia.
Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia.
Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants.
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.
High frequency of nonclassical steroid 21-hydroxylase deficiency.
Androgen excess in women: experience with over 1000 consecutive patients.
HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.
Congenital adrenal hyperplasia.
Prenatal sex hormone effects on child and adult sex-typed behavior: methods and findings.
Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter.
Puberty-related influences on brain development.
Evidence for an increased rate of cardiovascular events in patients with primary aldosteronism.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Structure and lipid transport mechanism of a StAR-related domain.
Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis.
Regulation of the acute production of steroids in steroidogenic cells.
SIGNIFICANCE OF SPIRAL ORGANISMS FOUND, AFTER TREATMENT, IN LATE HUMAN AND EXPERIMENTAL SYPHILIS.
Persistence of Treponema pallidum following penicillin G therapy. Report of two cases.
Neurosyphilis and penicillin levels in cerebrospinal fluid.
A retrospective examination of secondary sporozoite- and trophozoite-induced infections with Plasmodium falciparum: development of parasitologic and clinical immunity following secondary infection.
Effect of human immunodeficiency virus (HIV) infection on the course of syphilis and on the response to treatment.
Neurologic relapse after benzathine penicillin therapy for secondary syphilis in a patient with HIV infection.
Syphilis and HIV infection: an update.
Plasmodium vivax blood-stage dynamics.
Neurosyphilis. A study of 241 patients.
Cerebrospinal fluid abnormalities in patients with syphilis: association with clinical and laboratory features.
Immunoglobulins in multiple sclerosis and infections of the nervous system.
Detection by polymerase chain reaction of Treponema pallidum DNA in cerebrospinal fluid from neurosyphilis patients before and after antibiotic treatment.
Update on syphilis: resurgence of an old problem.
A retrospective examination of sporozoite- and trophozoite-induced infections with Plasmodium falciparum: development of parasitologic and clinical immunity during primary infection.
Are some cases of psychosis caused by microbial agents? A review of the evidence.
Alteration in the natural history of neurosyphilis by concurrent infection with the human immunodeficiency virus.
Anaemia of acute malaria infections in non-immune patients primarily results from destruction of uninfected erythrocytes.
Invasion of the central nervous system by Treponema pallidum: implications for diagnosis and treatment.
Immunohistochemical staining of ovarian granulosa cell tumors with monoclonal antibody against inhibin.
Metagenomic analyses of viruses in stool samples from children with acute flaccid paralysis.
Expression of claudins 1, 4, 5, and 7 in ovarian tumors of diverse types.
Clinical behavior and a contemporary management algorithm for prepubertal testis tumors: a summary of the Prepubertal Testis Tumor Registry.
CD56 is a sensitive and diagnostically useful immunohistochemical marker of ovarian sex cord-stromal tumors.
Calretinin, a more sensitive but less specific marker than alpha-inhibin for ovarian sex cord-stromal neoplasms: an immunohistochemical study of 215 cases.
Bleomycin, etoposide, and cisplatin combination therapy of ovarian granulosa cell tumors and other stromal malignancies: A Gynecologic Oncology Group study.
Stimulation of activin receptor II signaling pathways inhibits differentiation of multiple gastric epithelial lineages.
Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry.
Ovarian pathology and high incidence of sex cord tumors in follitropin receptor knockout (FORKO) mice.
Endometrial stromal tumors: an update on a group of tumors with a protean phenotype.
Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher's syndrome.
Stage at diagnosis of ovarian cancer in the United States, 1992-1997.
Sex cord-stromal tumors of the ovary and testis: their similarities and differences with consideration of selected problems.
Patterns and progress in ovarian cancer over 14 years.
Hepatic Bruit, Liver Cirrhosis, Sweating, alcohol consumption, fever, flatulence, chronic alcoholism, headache, acute headache, bilateral
Transcription factors GATA-4 and GATA-6 and a GATA family cofactor, FOG-2, are expressed in human ovary and sex cord-derived ovarian tumors.
Prevention of cachexia-like syndrome development and reduction of tumor progression in inhibin-deficient mice following administration of a chimeric activin receptor type II-murine Fc protein.
Management of ovarian stromal cell tumors.
OCT4 staining in testicular tumors: a sensitive and specific marker for seminoma and embryonal carcinoma.
Activin signaling through activin receptor type II causes the cachexia-like symptoms in inhibin-deficient mice.
Protective effect of depot-medroxyprogesterone acetate on surgically treated uterine leiomyomas: a multicentre case--control study.
Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.
Increased risk of cancer in patients with fumarate hydratase germline mutation.
Effect of mifepristone for symptomatic leiomyomata on quality of life and uterine size: a randomized controlled trial.
Hepatic Bruit, Liver Cirrhosis, Sweating, alcohol consumption, fever, flatulence, chronic alcoholism, headache, acute headache
Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response.
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels.
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer.
The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.