Results 91 to 100 of about 131,340 (225)

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Renal apolipoprotein A-I amyloidosis: a rare and usually ignored cause of hereditary tubulointerstitial nephritis [PDF]

, 2005
Apolipoprotein A-I amyloidosis is a rare, late-onset, autosomal dominant condition characterized by systemic deposition of amyloid in tissues, the major clinical problems being related to renal, hepatic, and cardiac involvement. Described is the clinical
Merlini G, Izzi C, CAPISTRANO M., SCOLARI F., SCOLARI, Francesco, Viola BF, Biasi L, ROCKEN C., Gregorini G, Donadei S, VIOLA B. F., Röcken C, MERLINI, GIAMPAOLO, Scalvini T, BIASI, LUIGI, Tardanico R, Capistrano M, Obici L, GREGORINI G., DONADEI S., IZZI C., TARDANICO R., OBICI L., SCALVINI T.   +23 more
core   +1 more source

Reassessing the role of antiphospholipid antibodies in placental‐mediated adverse pregnancy outcomes in systemic lupus erythematosus: A retrospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To examine how different antiphospholipid antibody (aPL) profiles influence placental‐mediated adverse pregnancy outcomes (APOs) in women with systemic lupus erythematosus (SLE). Methods This retrospective cohort study included 245 pregnant women with SLE and 490 controls from a single center.
Meng Jiang, Yanling Chang, Ning Zhang, Wen Di, Jiayue Wu   +4 more
wiley   +1 more source

Refractory Angioedema in a Patient with Systemic Lupus Erythematosus

Iranian Journal of Medical Sciences, 2015
Angioedema secondary to C1 inhibitor deficiency has been rarely reported to be associated with systemic lupus erythematosus. A genetic defect of C1 inhibitor produces hereditary angioedema, which is usually presented with cutaneous painless edema, but ...
Zahra Habibagahi, Jamshid Ruzbeh, Vahide Yarmohammadi, Malihe Kamali, Mohammad Hassan Rastegar   +4 more
doaj  

Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome

Kidney International Reports, 2017
X-linked Alport syndrome (XLAS) is a hereditary disease characterized by progressive nephritis, hearing loss, and ocular abnormalities. Affected male patients usually progress to end-stage renal disease in early or middle adulthood, and disease severity ...
Tomohiko Yamamura, Kandai Nozu, Xue Jun Fu, Yoshimi Nozu, Ming Juan Ye, Akemi Shono, Satoko Yamanouchi, Shogo Minamikawa, Naoya Morisada, Koichi Nakanishi, Yuko Shima, Norishige Yoshikawa, Takeshi Ninchoji, Ichiro Morioka, Hiroshi Kaito, Kazumoto Iijima   +15 more
doaj   +1 more source

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. [PDF]

, 2003
BACKGROUND\ud \ud Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).
Flanagan, J A, Gruenig, E, Sankelo, M, Halme, M, Elliott, C G, Laitinen, T, Morrell, N W, Trembath, R C, Räisänen-Sokolowski, A, Olschewski, H, Harrison, R E, Robbins, I M, Kermeen, F, Abdalla, S A, Rowell, J, Machado, R D, McLaughlin, V   +16 more
core   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Autosomal Dominant Alport′s syndrome: Study of a Large Tunisian Family

Saudi Journal of Kidney Diseases and Transplantation, 2006
Alport′s syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically heterogeneous nephropathy. Alport′s syndrome is often associated with sensorineural deafness
Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, Jarraya F, Hmida M, Gubler M, Ayadi H, Hachicha J   +10 more
doaj  

Rare Combination of Phenotypes of Karyomegalic Interstitial Nephritis and Autosomal Recessive Polycystic Kidney Disease in an Omani Child

Oman Medical Journal
Autosomal recessive polycystic kidney disease is one of the most prevalent inherited cystic kidney diseases in infants and children, common in highly consanguineous societies such as Oman. Karyomegalic interstitial nephritis is a rare cause of hereditary
Intisar Al Alawi, Maryam Al Shehhi, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer   +6 more
doaj   +1 more source

Spontaneous Coronary Artery Dissection: A Rare Manifestation of Alport Syndrome

Case Reports in Cardiology, 2017
Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. AS has been associated with renal, auditory, and ocular diseases due to the presence of abnormal alpha chains of ...
Amornpol Anuwatworn, Prince Sethi, Kelly Steffen, Orvar Jonsson, Marian Petrasko   +4 more
doaj   +1 more source