Growth factors confer immortality to sperm-generating stem cells
...ach parent in a couple carries a similar defective recessive gene for a disease, for example, it should be possible in the future to harvest the male's spermatogenic stem cells, correct the gene in culture and implant the stem cells back into the male to produce normal sperm," Brinster said. "The couple could...Gene therapy shows promise in model of Parkinson's disease
...veraccumulation of alpha-synuclein. A more common, recessive form of inherited Parkinson's disease typically strikes before the age of 40 and is linked to a mutation in the parkin gene. The loss of enzyme activity resulting from this mutation leads to an accumulation of protein substrates, including alpha-synu...UCSD biologists identify gene in corn plants that may have paved way for development of maize
...bigger ears that could be harvested. The recessive mutation leading to barren stalks in corn plants w...and the discovery that it was responsible for this recessive mutation was subsequently made by Andrea Gallavotti, a postdoctoral fellow in Schmidt's laboratory. ...Scientists identify molecule that regulates well-known tumor suppressor
...a predictive diagnostic for early-onset, autosomal recessive Parkinson's disease. The other members of the research team include Raymond H. Kim, YingJu Jang, and Tak W. Mak of Ontario Cancer Institute and University of Toronto; Malte Peters, Carmela DeLuca, Jennifer Liepa, Lily Zhou, and Bryan Snow of Ontario ...Other highlights in the June 1 JNCI
... for ataxia telangiectasia (A-T), a rare autosomal recessive neurologic disorder. A-T patients have a higher risk of developing childhood lymphoid leukemias and lymphomas in addition to epithelial tumors later in life. Studies have also indicated that individuals who carry one mutated copy of the ATM gene (i.e...New gene associated with Fanconi anemia 'explains' hallmark chromosomal instability
...l building block at that position. Because FA is a recessive genetic disease, an affected child needs to inherit two copies of an errant gene, each from a parent that carried a single mutation. They were startled to find only one suspect location in the entire genome, on chromosome 17, that was present in all ...Genetic testing helps physicians zero in on eye disease
...ction of the retina. A patient with the autosomal recessive form of the disease (arRP) has inherited one gene from each parent, neither of whom is affected by RP. It is nearly impossible to identify which form of the disease a patient has through a clinical examination alone, notes John R. Heckenlively, M.D...JCI table of contents October 1, 2005
...omes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. AUTHOR CONTACT: Rajesh Thakker University of Oxford, Oxford, Great Britain Phone: 44 1865 857501; Fax: 44 1865 857502; E-mail: rajesh.thakker@ndm.ox.ac.uk View the PDF of this article at: https://www.the-jci.org/ar...Missouri genetic disorder's roots untangled by international team
...lies with a history of a condition called X-linked recessive idiopathic hypoparathyroidism (XLHPT): a portion of the X chromosome, a human sex chromosome, has been removed and replaced by a copy of a much larger section of genetic material from chromosome 2. Alterations of such large regions of genetic code th...JCI table of contents November, 2005
...inical and immunological phenotype associated with recessive RAG1 hypomorphic mutations in 4 patients from 4 different families. The patients have severe CMV infection and autoimmune blood cell manifestations. This observation extends the range of clinical and immunological phenotypes associated with RAG muta...Pitt professor's theory of evolution gets boost from cell research
...nes to mutate, and those altered genes remain in a recessive state, spreading silently through the population u...onment by the time the novelty finally escapes its recessive state and expresses itself. "You just can't do a quick fix on the environment to prevent extinction ...Balancing male fertility and disease resistance
...alance between fertility and pathogen defense. The recessive xa13 allele provides resistance to bacterial leaf blight, the most devastating bacterial plant disease in the world. While expression of the dominant Xa13 allele makes plants more susceptible to disease, it also promotes pollen development. This surp...Gene mutation may influence age at onset of Parkinson's disease
...ssibility that heterozygous mutations in autosomal recessive genes such as parkin and PINK1 affect the susceptibility and age of onset of Parkinson's disease. These findings are provocative and add a new genetic dimension to the pathogenesis of Parkinson's disease." (Arch Neurol. 2006;63:807-808. Available p...Rare disease's gene may illuminate major disorders
...tment for either disease, which are inherited in a recessive fashion, meaning that both parents must contribute a defective gene to make both copies in the child defective. Incidence is 1 in 500,000 to 1 million. PLA2G6's discovery means a clinical test can be developed to help families determine their chances...Scientists develop a new diagnostic approach for carriers of recessive genetic disorders
...nosis of medical disorders that are inherited in a recessive manner. Their method is based on identifying subt...model for their work, Cheung and Ewens used a rare recessive disease known as Nijmegen breakage syndrome (NBS). Only one gene called NBS1 is known to be cau...New study pinpoints unique genetic susceptibility for viral encephalitis
...ephalitis. "We and our colleagues have identified recessive UNC-93B deficiency as a genetic etiology of herpes simplex encephalitis in otherwise healthy patients," said Professor Bruce Beutler, M.D., one of three Scripps Research scientists who contributed to the study. "The discovery of this genetic cause fo...When two mutants collide: How XPD disorders can be partially rescued in compound heterozygotes
In recessive disorders, such as the three clinically distinct d...les using compound heterozygote mice that have the recessive mutant TTD allele on one chromosome, and a different mutant allele on the other. They linked physica...Discovery of the first resistance gene to rice yellow mottle virus
...vidence that resistance was controlled by a single recessive gene. Subsequent genetic mapping identified a fragment of chromosome 4 containing the resistance gene. Data from rice genome sequencing have been extremely useful for research on this fragment to find out if one gene rather than another could confer ...New hominid species may be early version of Homo sapiens
...phaly syndromes typically derive from an autosomal recessive gene and can easily recur in a small, inbred population, which would explain the presence of more than one specimen on an isolated island. In addition, they analyze several microcephalic syndromes that could be applied to the LB1 skull. "We find that......d his colleagues focused on, in contrast, showed a recessive form of the disease that was inherited. Other researchers had mapped this defect to the chromosomal region that contains the CRTAP gene. By studying these families, Lee and his colleagues found that partial loss of function of the CRTAP pro...