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Biomedical subjects

D Weil

Publications and source records attributed to D Weil.

156 records · Page 9Linked to original sources
PubMedDate not supplied

Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness.

In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafness, DFNB loci, we have pursued the analysis of large consanguineous affected families living in geographically isolated areas. Here, we report on the study of a Lebanese family affected with a prelingual profound sensorineural isolated form of deafness. Segregation analysis resulted in a linkage with locus D7S554 to locus D7S2459 on 7q31, with a maximum lod score of 6.3. The causative gene was mapped to a 15 cM interval extending from D7S527 to D7S3074 (on the telomeric side). The distal limit of this interval could be located between D7S496 and D7S3074 which are the closest polymorphic loci flanking the gene underlying Pendred syndrome (PDS) on the centromeric and on the telomeric sides, respectively. To eliminate PDS as a candidate gene, its 21 exons were sequenced. No mutation was detected. This study therefore reports the identification of a novel locus, DFNB14, on chromosome 7q31, in a position proximal to PDS.

Audiometry↗
PubMedDate not supplied

Control your inventory in a world of lean retailing.

As retailers adopt lean retailing practices, manufacturers are feeling the pinch. Retailers no longer place large seasonal orders for goods in advance-instead, they require ongoing replenishment of stock, forcing manufacturers to predict demand and then hold substantial inventories indefinitely. Manufacturers now carry the cost of inventory risk--the possibility that demand will dry up and goods will have to be sold below cost. And as product proliferation increases, customer demand becomes harder to predict. Most manufacturers apply one inventory policy for all stock-keeping units in a product line. But the inventory demand for SKUs within the same product line can vary significantly. SKUs with high volume typically have little variation in weekly sales, while slow-selling SKUs can vary enormously in weekly sales. The greater the variation, the larger the inventory the manufacturer must hold relative to an SKU's expected weekly sales. By differentiating inventory policies at the SKU level, manufacturers can reduce inventories for the high-volume SKUs and increase them for the low-volume ones--and thereby improve the profit-ability of the entire line. SKU-level differentiation can also be applied to sourcing strategies. Instead of producing all the SKUs for a product line at a single location, either offshore at low cost or close to market at higher cost, manufacturers can typically do better by going for a mixed allocation. Low-variation goods should be produced mainly offshore, while high-variation goods are best made close to markets.

Contract Services↗
PubMedDate not supplied

[Genetic control of hexosaminidases].

The authors present the results they obtained which interspecific cell hybrids. The hexosaminidases A, B and C, seem to be under the control of the two genes alpha and beta, B and CS constituing homopolymers (beta beta)n and (alpha alpha)n, A being a heteropolymer (alpha beta)n. The isozyme CF, particularly abundant in fetal tissues and found also in Tay-Sachs by some authors is, in all probability, under independent genetic control.

Animals↗
PubMedDate not supplied

[Localization of a structural locus of erythrocyte inorganic pyrophosphatase on chromosome 10 in man by the method of human-hamster cellular hybridization].

The study of man-hamster hybrids puts forward a correlation between the activity of the erythrocyte inorganic pyrophosphatase and the presence of the human chromosome C 10, and on the other hand, a very positive correlation between the activity of this enzyme with the soluble glutamate-oxaloacetate transaminase (GOTS), already localized on the same chromosome.

Animals↗