Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome Hagit N. Baris*, Wai-Man Chan*, Caroline Andrews, Doron M. Behar, Diana J. Donovan, Cynthia C. Morton, Judith Ranells, Tuya Pal, Azra H. Ligon & Elizabeth C. Engle Program in Genomics, Boston Children’s Hospital, Boston, Massachusetts, 02115 The Recanati Genetic Institute, Beilinson Hospital, Rabin Medi...

Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from α2-chimaerin (CHN1) missense mutations. We report a knockin α2-chimaerin mouse (Chn1KI/KI) that models DRS. Whole embryo imaging of Chn1KI/KI mice revealed stalled abducens nerve growth and selective trochlear and first cervical spinal nerve guidance abnormalities. Stalled ab...

Following is Part I of an excerpt from the soon-to-be released book, "The Health Care Solution: Understanding the Crisis and the Cure" by CAHHS CEO/President C. Duane Dauner. Dauner paves the road to reform in his book by providing a step-by-step solution to ending the nation's health care crisis.

Genes required for limb developm ent have, in several instances, first been identified by studies of human diseases in which the limbs are affected. In humans, m utations in the transcription factor SALL4 results in Okihiro syndrome (OS), which is characterised by forelimb defects and the eye disorder, Duane anom aly. OS patients forelim b defects range from subtle thumb abnormalities to trunca...

In a recent paper, Duane, Garsia, and Zabrocki introduced a new statistic, “ndinv”, on a family of parking functions. The definition was guided by a recursion satisfied by the polynomial 〈∆hmCp1Cp2 . . . Cpk1, en〉, for ∆hm a Macdonald eigenoperator, Cpi a modified Hall-Littlewood operator and (p1, p2, . . . , pk) a composition of n. Using their new statistics, they are able to give a new interp...

Since Felty's description in 1924 of a syndrome consisting of chronic arthritis, splenomegaly, and leucopenia, there has been much speculation on its essential nature. The condition has been considered to be an unusual variant of rheumatoid arthritis (Hutt, Richardson, and Staffurth, 1951) or simply the fortuitous association of chronic arthritis and cirrhosis of the liver with portal hypertens...