نتایج جستجو برای: unknown mutations

تعداد نتایج: 374830  

Journal: :hepatitis monthly 0
masood ziaee hepatitis research center, birjand university of medical sciences, birjand, ir iran davod javanmard hepatitis research center, birjand university of medical sciences, birjand, ir iran; hepatitis research center, birjand university of medical sciences, ghafari ave., birjand, ir iran. tel/fax: +98-5632433004 gholamreza sharifzadeh hepatitis research center, birjand university of medical sciences, birjand, ir iran mohammad hasan namaei hepatitis research center, birjand university of medical sciences, birjand, ir iran ghodsiyeh azarkar hepatitis research center, birjand university of medical sciences, birjand, ir iran

objectives the present study aimed to evaluate the genotypes and prevalence of mutations in a segment of s and rt gene in hbv isolates in southern khorasan, iran. methods this was a population-based study comprising 5,235 randomized samples for hbv screening. a nested-polymerase chain reaction (pcr) test was followed by direct sequencing, and the sequences blast with present sequences of ncbi d...

Journal: :The Journal of bone and joint surgery. American volume 2015
Gabe Haller David M Alvarado Marcia C Willing Alan C Braverman Keith H Bridwell Michael Kelly Lawrence G Lenke Scott J Luhmann Christina A Gurnett Matthew B Dobbs

BACKGROUND Scoliosis is a feature of several genetic disorders that are also associated with aortic aneurysm, including Marfan syndrome, Loeys-Dietz syndrome, and type-IV Ehlers-Danlos syndrome. Life-threatening complications of aortic aneurysm can be decreased through early diagnosis. Genetic screening for mutations in populations at risk, such as patients with adolescent idiopathic scoliosis,...

Journal: :reports of biochemistry and molecular biology 0
azadeh shojaei department of medical genetics and molecular biology, faculty of medicine, iran university of medical sciences, tehran, iran. reza ebrahimzadeh-vesal department of basic medical science, faculty of medicine, neyshabur university of medical sciences, neyshabur, iran. ali ahani mendel medical genetic laboratory, tehran, iran maryam razzaghy-azar : metabolic disorders research center, endocrinology and metabolism molecular-cellular sciences institute, iran university of medical sciences, tehran, iran; h. aliasghar hospital, iran university of medical sciences, tehran, iran. golnaz khakpour department of medical genetics, school of medicine, tehran university of medical sciences, tehran, iran. farideh ghazi tel: +98 21 88602209; fax: +98 21 88602209;

background: disorders of sex development (dsds) belong to uncommon pathologies and result from abnormalities during gonadal determination and differentiation. various gene mutations involved in gonadal determination and differentiation have been associated with gonadal dysgenesis. despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe 46,xy ...

1997
Shamit Kachru

We find M-theory (Type IIA) duals for compactifications of the 9d CHL string to 5d (4d) on K3 (K3 × S 1). The IIA duals are Calabi-Yau orbifolds with nontrivial RR U (1) In ten dimensions, the consistent critical string theories with (at least) sixteen super-charges have been known since the 1980s. There are (after accounting for the S-duality of the two SO(32) theories) four. In D = 9, in addi...

Journal: :Genes & development 2011
Franklin Zhong Sharon A Savage Marina Shkreli Neelam Giri Lea Jessop Timothy Myers Renee Chen Blanche P Alter Steven E Artandi

Dyskeratosis congenita (DC) is a genetic disorder of defective tissue maintenance and cancer predisposition caused by short telomeres and impaired stem cell function. Telomerase mutations are thought to precipitate DC by reducing either the catalytic activity or the overall levels of the telomerase complex. However, the underlying genetic mutations and the mechanisms of telomere shortening rema...

2001
M. Koniorczyk V. Bužek J. Janszky

We present a unified approach to quantum teleportation in arbitrary dimensions based on the Wigner-function formalism. This approach provides us with a clear picture of all manipulations performed in the telepor-tation protocol. In addition within the framework of the Wigner-function formalism all the imperfections of the manipulations can be easily taken into account. All quantum mechanical ph...

2014
Bryony Leeke Judith Marsman Justin M O’Sullivan Julia A Horsfield

Recently, whole genome sequencing approaches have pinpointed mutations in genes that were previously not associated with cancer. For Acute Myeloid Leukaemia (AML), and other myeloid disorders, these approaches revealed a high prevalence of mutations in genes encoding the chromosome cohesion complex, cohesin. Cohesin mutations represent a novel genetic pathway for AML, but how AML arises from th...

Journal: :Journal of Investigative Dermatology 2022

Chronic, excessive exposure to solar ultraviolet radiation is the major causative agent for cutaneous squamous cell carcinomas. Mutations in p53 are essential these cancers develop. UV also immunosuppressive and an additional requirement UV-induced SCCs can be reversed with compound CP31398, which results fewer mice exposed a skin carcinogenesis protocol. It unknown whether mutations contribute...

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